S3F (p.Ser3Phe) variant of RIT1 (GTP-binding protein Rit1)
S3F (p.Ser3Phe) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- ExAC rs775310783
- gnomAD rs775310783
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available