S13R (p.Ser13Arg) variant of RIT1 (GTP-binding protein Rit1)
S13R (p.Ser13Arg) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- cosmic curated COSV64167
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available