H50N (p.His50Asn) variant of RIT1 (GTP-binding protein Rit1)
H50N (p.His50Asn) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H50N (p.His50Asn) variant details
- p.His50Asn
- gnomAD 1-155910465-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.71
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available