S65P (p.Ser65Pro) variant of EDNRB (Endothelin receptor type B)
S65P (p.Ser65Pro) 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 0.30 / 1. The record also includes population frequency data and structural context.
S65P (p.Ser65Pro) variant details
- p.Ser65Pro
- rs2501609675
- ClinGen CA388452852
- ClinVar RCV003695655
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available