W54R (p.Trp54Arg) variant of EDNRB (Endothelin receptor type B)
W54R (p.Trp54Arg) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
W54R (p.Trp54Arg) variant details
- p.Trp54Arg
- cosmic curated COSV57528
- gnomAD rs1362059171
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 8.20
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available