RIPPLY1 p.Thr83=
c.249G>A · rs190216177 · VCV780717
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.04%, afr)
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 0.92 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 2.009 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.04%
African / African-American · 596/57,198 alleles
Filtering AF
0.973%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.945%
Overall
0.067%
810/1,209,682 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.04% | 96 |
| Middle Eastern | 0.644% | 155 |
| Admixed American | 0.124% | 804 |
| Remaining individualsnot grpmax-eligible | 0.103% | 971 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0409% | 2,448 |
| South Asian | 0.0123% | 8,107 |
| European (non-Finnish) | 0.00693% | 14,435 |
| East Asian | 0.00593% | 16,876 |
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
- RIPPLY1
- Protein
- p.Thr83=
- Coding
- c.249G>A
- MANE Select
- NM_020384 · reported on NM_138382
- dbSNP
- rs190216177
- Type
- single nucleotide variant
- Location
- chrX:106901521 (GRCh38)
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/ripply1-p-thr83 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown