RBP4 p.Ser64=
c.192C>G · rs1454300029 · VCV1653536
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000255%, 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 -1.8 | GERP -3.9 |
| Overall | ||
| CADD | 8.379 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000255%
European (non-Finnish) · 3/1,178,716 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000186%
3/1,610,674 alleles · very rare
exomes 2/1,458,450 · genomes 1/152,224 · joint denominator
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.Ser64=
- Coding
- c.192C>G
- MANE Select
- NM_006744
- dbSNP
- rs1454300029
- Type
- single nucleotide variant
- Location
- chr10:93600723 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 90.33 · 24 PDB
- Residue 64
- a β-strand
Similar variants
- 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
- RBP4 p.Asp193Asn 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-ser64 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown