A14V (p.Ala14Val) variant of EDNRB (Endothelin receptor type B)
A14V (p.Ala14Val) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Waardenburg syndrome type 4A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs548023225
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57519
- 1000Genomes rs548023225
- Uncertain significance
- Waardenburg syndrome type 4A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 24.80
- PolyPhen-2 0.32
- SIFT 0.17
- ClinVar: Uncertain significance (Waardenburg syndrome type 4A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available