I42M (p.Ile42Met) variant of RIT1 (GTP-binding protein Rit1)
I42M (p.Ile42Met) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- rs948974325
- Ensembl rs948974325
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.78
- MetaLR 0.34
- MetaSVM -0.34
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available