RP2 p.Pro95=
c.285C>G · rs374743004 · VCV1138007
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0241%, amr)
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 -15 | GERP -3.6 |
| Overall | ||
| CADD | 0.032 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0241%
Admixed American · 11/45,688 alleles
Filtering AF
0.0135%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0104%
Overall
0.00248%
30/1,209,955 alleles · ultra-rare
exomes 24/1,098,162 · genomes 6/111,793 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0241% | 4,153 |
| Remaining individualsnot grpmax-eligible | 0.0105% | 9,520 |
| European (non-Finnish) | 0.00156% | 63,946 |
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
- RP2
- Protein
- p.Pro95=
- Coding
- c.285C>G
- MANE Select
- NM_006915
- dbSNP
- rs374743004
- Type
- single nucleotide variant
- Location
- chrX:46853658 (GRCh38)
- Structure
- AlphaFold pLDDT 91.64 · 3 PDB
- Residue 95
- a UniProt-annotated variant site (in rp2; uncertain significance); the c-cap/cofactor c-like domain; a β-strand
Similar variants
- RP2 p.Pro95Leu Pathogenic ★ same residue
- RP2 p.Pro95His Uncertain significance ★ ⚠ same residue
- RP2 p.Pro95_Val96insTer Pathogenic ★ same residue
- RP2 c.768+1G>T Pathogenic ★★ same type
- RP2 c.884-1G>A Pathogenic ★★ same type
- RP2 c.969+2T>C Pathogenic/Likely pathogenic ★★ same type
- RP2 c.969+3A>G Pathogenic ★★ same type
- RP2 p.Arg118Cys Pathogenic/Likely pathogenic ★★ 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/rp2-p-pro95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown