I73V (p.Ile73Val) variant of RIT1 (GTP-binding protein Rit1)
I73V (p.Ile73Val) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- gnomAD 1-155904751-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.44
- MetaLR 0.31
- MetaSVM -0.46
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available