RIGI p.Pro217=
c.651A>G · rs770573153 · VCV1578908
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0658%, mid)
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 0.25 | GERP -0.59, phastCons 1 |
| Overall | ||
| CADD | 6.857 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0658%
Middle Eastern · 4/6,080 alleles
Filtering AF
0.0265%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0232%
Overall
0.00415%
67/1,613,366 alleles · ultra-rare
exomes 64/1,461,134 · genomes 3/152,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0658% | 1,520 |
| South Asian | 0.0363% | 2,755 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,411 |
| African / African-American | 0.00267% | 37,455 |
| European (non-Finnish) | 0.00186% | 53,625 |
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
- RIGI
- Protein
- p.Pro217=
- Coding
- c.651A>G
- MANE Select
- NM_014314
- dbSNP
- rs770573153
- Type
- single nucleotide variant
- Location
- chr9:32491341 (GRCh38)
- Structure
- AlphaFold pLDDT 85.40 · 44 PDB
Similar variants
- RIGI c.1923+1G>A Uncertain significance ★★ same type
- RIGI c.954-6T>G Uncertain significance ★★ same type
- RIGI p.Ala436Val Uncertain significance ★★ ⚠ same type
- RIGI p.Ala486Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Ala537Ser Uncertain significance ★★ ⚠ same type
- RIGI p.Ala537Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Ala774Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Arg109Cys 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/rigi-p-pro217 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown