L7M (p.Leu7Met) variant of EDNRB (Endothelin receptor type B)
L7M (p.Leu7Met) 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 0.34 / 1. The record also includes population frequency data and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- rs1239813325
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57522
- gnomAD rs1239813325
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 23.60
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs5345)
- Population evidence available
- Structural context available