K51N (p.Lys51Asn) variant of EDNRB (Endothelin receptor type B)
K51N (p.Lys51Asn) 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 0.27 / 1. The record also includes population frequency data and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57525
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available