RIT1 p.Pro7=
c.21A>G · VCV4278842
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.65 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.42 | gain · loss 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -4.4 | GERP -3 |
| Overall | ||
| CADD | 14.74 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RIT1
- Protein
- p.Pro7=
- Coding
- c.21A>G
- MANE Select
- NM_006912
- Type
- single nucleotide variant
- Location
- chr1:155910741 (GRCh38)
- Gene constraint
- LOEUF 0.523 · pLI 0.96 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.78 · 3 PDB
Similar variants
- RIT1 p.Met90Val Pathogenic ★★★ ⚠ same type
- RIT1 p.Arg123Cys Uncertain significance ★★★ same type
- RIT1 p.Gly78Glu Uncertain significance ★★★ ⚠ same type
- RIT1 p.Ala57Gly Pathogenic/Likely pathogenic ★★ ⚠ same type
- RIT1 p.Ala77Gly Pathogenic/Likely pathogenic ★★ same type
- RIT1 p.Ala77Pro Pathogenic/Likely pathogenic ★★ same type
- RIT1 p.Ala77Ser Pathogenic/Likely pathogenic ★★ same type
- RIT1 p.Ala77Thr 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/rit1-p-pro7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown