P38L (p.Pro38Leu) variant of EDNRB (Endothelin receptor type B)
P38L (p.Pro38Leu) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs779495524
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- ExAC rs779495524
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available