S10G (p.Ser10Gly) variant of RIT1 (GTP-binding protein Rit1)
S10G (p.Ser10Gly) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- ExAC rs745465435
- gnomAD rs745465435
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0997
- REVEL 0.08
- CADD 9.02
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available