Is CFB p.Arg150= (c.450A>G) pathogenic?

CFB p.Arg150= (c.450A>G) is classified Benign/Likely benign in CFB (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-02-04). Common (popmax 96.1%, afr) — too common for a highly-penetrant pathogenic allele; Associated with complement factor b deficiency.

What condition is associated with CFB p.Arg150= (c.450A>G)?

CFB p.Arg150= (c.450A>G) is associated with complement factor b deficiency, atypical hemolytic-uremic syndrome with B factor anomaly, atypical hemolytic-uremic syndrome (ClinVar).

CFB p.Arg150=

Q: How common is CFB p.Arg150= (c.450A>G) in the general population?

CFB p.Arg150= (c.450A>G) is common (popmax 96.1%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.450A>G · rs1048709 · VCV356272

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Common

common (popmax 96.1%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

complement factor b deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.9	GERP -3.4, phastCons 1
Overall
CADD	10.85	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 96.1% African / African-American · 72,064/74,980 alleles

Filtering AF 95.5% ClinGen BA1/BS1 input FAF95, joint · FAF99 95.3%

Overall 81.9% 1,321,285/1,612,792 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	96.1%	1
Ashkenazi Jewishnot grpmax-eligible	94.6%	1
Middle Eastern	92.4%	1
Amishnot grpmax-eligible	91.9%	1
South Asian	90.4%	1
Remaining individualsnot grpmax-eligible	82.8%	1
European (non-Finnish)	80.7%	1
Finnishnot grpmax-eligible	80%	1
Admixed American	77%	1
East Asian	71.6%	1

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CFB
Protein: p.Arg150=
Coding: c.450A>G
MANE Select: NM_001710
dbSNP: rs1048709
Type: single nucleotide variant
Location: chr6:31947158 (GRCh38)
Gene constraint: LOEUF 0.719 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.54 · 28 PDB
Residue 150: a disulfide bond; the sushi 2 domain

Full CFB gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

complement factor b deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: atypical hemolytic-uremic syndrome with B factor anomaly atypical hemolytic-uremic syndrome

Similar variants

CFB p.Arg150Ter Uncertain significance ★ same residue
CFB c.-3G>A Uncertain significance ★★ same condition
CFB p.Arg138Gln Uncertain significance ★★ ⚠ same condition
CFB p.Arg138Trp Uncertain significance ★★ ⚠ same condition
CFB p.Arg203Gln Uncertain significance ★★ same condition
CFB p.Arg379Cys Uncertain significance ★★ same condition
CFB p.Gln256Ter Uncertain significance ★★ same condition
CFB p.Glu601Lys Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cfb-p-arg150 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown