A60T (p.Ala60Thr) variant of EDNRB (Endothelin receptor type B)
A60T (p.Ala60Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs142569954
- ClinGen CA7012386
- ClinVar RCV001958120
- ESP rs142569954
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 7.86
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available