R35T (p.Arg35Thr) variant of EDNRB (Endothelin receptor type B)
R35T (p.Arg35Thr) 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 0.62 / 1. The record also includes population frequency data and structural context.
R35T (p.Arg35Thr) variant details
- p.Arg35Thr
- rs1259767883
- ClinGen CA388453031
- ClinVar RCV001937031
- gnomAD rs1259767883
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 7.36
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available