A43S (p.Ala43Ser) variant of EDNRB (Endothelin receptor type B)
A43S (p.Ala43Ser) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD rs200304077
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.81
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available