S27R (p.Ser27Arg) variant of HADHB (P55084)
S27R (p.Ser27Arg) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD 2-26254446-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.62
- CADD 23.40
- PolyPhen-2 0.19
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available