R20G (p.Arg20Gly) variant of HADHB (P55084)
R20G (p.Arg20Gly) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- gnomAD 2-26254312-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.37
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available