Is RBP1 p.Arg50= (c.150C>T) pathogenic?

RBP1 p.Arg50= (c.150C>T) is classified Benign in RBP1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-02-02). Common (popmax 14.5%, amr) — too common for a highly-penetrant pathogenic allele.

RBP1 p.Arg50=

Q: How common is RBP1 p.Arg50= (c.150C>T) in the general population?

RBP1 p.Arg50= (c.150C>T) is common (popmax 14.5%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.150C>T · rs11549984 · VCV1601100

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Common

common (popmax 14.5%, amr) — too common for a highly-penetrant pathogenic allele

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.71	GERP -2.2, phastCons 0.041
Overall
CADD	10.68	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 14.5% Admixed American · 8,379/57,878 alleles

Filtering AF 14.2% ClinGen BA1/BS1 input FAF95, joint · FAF99 14.1%

Overall 11% 175,970/1,596,868 alleles · common exomes 161,172/1,444,572 · genomes 14,798/152,296 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	14.5%	7
Finnishnot grpmax-eligible	13.7%	7
European (non-Finnish)	11.7%	9
Remaining individualsnot grpmax-eligible	10%	10
South Asian	8.08%	12
Middle Eastern	6.85%	15
African / African-American	6.16%	16
East Asian	5.38%	19
Ashkenazi Jewishnot grpmax-eligible	4.82%	21
Amishnot grpmax-eligible	3.51%	29

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: RBP1
Protein: p.Arg50=
Coding: c.150C>T
MANE Select: NM_002899
dbSNP: rs11549984
Type: single nucleotide variant
Location: chr3:139539569 (GRCh38)

Full RBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/rbp1-p-arg50 (accessed [today's date]).

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