RBP4 p.Val170=
c.510A>C · rs776942406 · VCV1642554
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00178%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.061 | GERP -2.1, phastCons 0.36 |
| Overall | ||
| CADD | 3.808 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00178%
European (non-Finnish) · 21/1,180,016 alleles
Filtering AF
0.00114%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000971%
Overall
0.00136%
22/1,613,442 alleles · very rare
exomes 20/1,461,244 · genomes 2/152,198 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00178% | 56,191 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,428 |
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
- RBP4
- Protein
- p.Val170=
- Coding
- c.510A>C
- MANE Select
- NM_006744
- dbSNP
- rs776942406
- Type
- single nucleotide variant
- Location
- chr10:93593881 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 90.33 · 24 PDB
- Residue 170
- an α-helix
Similar variants
- RBP4 p.Val170Ile Uncertain significance ★ ⚠ same residue
- RBP4 p.Ala6Val Uncertain significance ★★ ⚠ same type
- RBP4 p.Arg173Trp Uncertain significance ★★ ⚠ same type
- RBP4 p.Arg20Cys Uncertain significance ★★ ⚠ same type
- RBP4 p.Arg37Gly Uncertain significance ★★ ⚠ same type
- RBP4 p.Asn189Ser Uncertain significance ★★ ⚠ same type
- RBP4 p.Asp130Asn Uncertain significance ★★ ⚠ same type
- RBP4 p.Asp158Tyr 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/rbp4-p-val170 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown