A69V (p.Ala69Val) variant of EDNRB (Endothelin receptor type B)
A69V (p.Ala69Val) in EDNRB (Endothelin receptor type B) 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 0.56 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs1019947807
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57521
- TOPMed rs1019947807
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available