S10I (p.Ser10Ile) variant of RIT1 (GTP-binding protein Rit1)
S10I (p.Ser10Ile) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- rs1673577896
- ClinGen CA342776484
- ClinVar RCV002282884
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.12
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available