W17R (p.Trp17Arg) variant of HADHB (P55084)
W17R (p.Trp17Arg) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- gnomAD 2-26254303-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.54
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available