Is CFAP74 p.Val191= (c.573G>A) pathogenic?

CFAP74 p.Val191= (c.573G>A) is classified Benign in CFAP74 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-04-16). Common (popmax 8.03%, eas) — too common for a highly-penetrant pathogenic allele.

CFAP74 p.Val191=

Q: How common is CFAP74 p.Val191= (c.573G>A) in the general population?

CFAP74 p.Val191= (c.573G>A) is common (popmax 8.03%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.573G>A · rs77196972 · VCV773794

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 8.03%, eas) — too common for a highly-penetrant pathogenic allele

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 -5.6	GERP -3.5
Overall
CADD	0.037	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.03% East Asian · 3,597/44,770 alleles

Filtering AF 7.82% ClinGen BA1/BS1 input FAF95, joint · FAF99 7.73%

Overall 0.37% 5,970/1,612,658 alleles · common

Ancestry group	Frequency	1 in
East Asiangrpmax	8.03%	12
Admixed American	1.58%	63
Remaining individualsnot grpmax-eligible	0.821%	122
African / African-American	0.809%	124
South Asian	0.155%	645
Middle Eastern	0.033%	3,027
European (non-Finnish)	0.0137%	7,280

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: CFAP74
Protein: p.Val191=
Coding: c.573G>A
MANE Select: NM_001304360
dbSNP: rs77196972
Type: single nucleotide variant
Location: chr1:1974126 (GRCh38)
Gene constraint: LOEUF 0.799 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.38

Full CFAP74 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CFAP74 p.Lys394Met Uncertain significance ★★ ⚠ same type
CFAP74 p.Arg365Gln Likely benign ★★ same type
CFAP74 p.Gly5Ser Likely benign ★★ same type
CFAP74 p.Arg280Ter Likely pathogenic ★ same type
CFAP74 c.1851+2T>C Uncertain significance ★ same type
CFAP74 c.2176+30T>G Uncertain significance ★ same type
CFAP74 c.2176+34C>T Uncertain significance ★ same type
CFAP74 c.785+1G>A Uncertain significance ★ same type

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/cfap74-p-val191 (accessed [today's date]).

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