S6G (p.Ser6Gly) variant of EDNRB (Endothelin receptor type B)
S6G (p.Ser6Gly) 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 0.28 / 1. The record also includes population frequency data and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available