Y58C (p.Tyr58Cys) variant of RIT1 (GTP-binding protein Rit1)
Y58C (p.Tyr58Cys) 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 0.82 / 1. The record also includes population frequency data and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- rs2527182416
- ClinGen CA342803547
- ClinVar RCV002399300
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.93
- MetaLR 0.73
- MetaSVM 0.71
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available