N104I (p.Asn104Ile) variant of EDNRB (Endothelin receptor type B)
N104I (p.Asn104Ile) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N104I (p.Asn104Ile) variant details
- p.Asn104Ile
- ExAC rs780355308
- TOPMed rs780355308
- gnomAD rs780355308
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available