R63H (p.Arg63His) variant of RIT1 (GTP-binding protein Rit1)
R63H (p.Arg63His) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- gnomAD rs1673400003
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.50
- MetaLR 0.38
- MetaSVM -0.12
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.56
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available