V8I (p.Val8Ile) variant of RIT1 (GTP-binding protein Rit1)
V8I (p.Val8Ile) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- gnomAD rs1193358245
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.13
- CADD 9.78
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available