A11T (p.Ala11Thr) variant of EDNRB (Endothelin receptor type B)
A11T (p.Ala11Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 19.80
- PolyPhen-2 0.05
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available