P5T (p.Pro5Thr) variant of EDNRB (Endothelin receptor type B)
P5T (p.Pro5Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- rs12720160
- ClinGen CA7012412
- ClinVar RCV002606197
- UniProt VAR 019285
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs12720160)
- UniProt: Uncertain significance (in dbSNP:rs12720160)
- Population evidence available
- Structural context available
- Literature evidence available