N104S (p.Asn104Ser) variant of EDNRB (Endothelin receptor type B)
N104S (p.Asn104Ser) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- ExAC rs780355308
- TOPMed rs780355308
- gnomAD rs780355308
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 24.10
- PolyPhen-2 0.53
- SIFT 0.03
- Population evidence available
- Structural context available