C12S (p.Cys12Ser) variant of RIT1 (GTP-binding protein Rit1)
C12S (p.Cys12Ser) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
C12S (p.Cys12Ser) variant details
- p.Cys12Ser
- rs1177306699
- ClinGen CA342776449
- ClinVar RCV004079516
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.09
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available