Y102C (p.Tyr102Cys) variant of EDNRB (Endothelin receptor type B)
Y102C (p.Tyr102Cys) 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 0.69 / 1. The record also includes population frequency data and structural context.
Y102C (p.Tyr102Cys) variant details
- p.Tyr102Cys
- rs2501608613
- ClinGen CA388452618
- ClinVar RCV003566016
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available