Y65C (p.Tyr65Cys) variant of EDN1 (Endothelin-1)
Y65C (p.Tyr65Cys) in EDN1 (Endothelin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Y65C (p.Tyr65Cys) variant details
- p.Tyr65Cys
- NCI-TCGA Cosmic COSV6508
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.97
- MetaLR 0.89
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available