Y126C (p.Tyr126Cys) variant of REN (Renin)
Y126C (p.Tyr126Cys) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Y126C (p.Tyr126Cys) variant details
- p.Tyr126Cys
- cosmic curated COSV65817
- Ensembl rs200507579
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.04
- CADD 11.50
- PolyPhen-2 0.12
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available