Q2R (p.Gln2Arg) variant of EDNRB (Endothelin receptor type B)
Q2R (p.Gln2Arg) 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.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD rs1468720481
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available