A50V (p.Ala50Val) variant of RRAD (GTP-binding protein RAD)
A50V (p.Ala50Val) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- Ensembl rs2145486339
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.27
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available