S27G (p.Ser27Gly) variant of HADHB (P55084)
S27G (p.Ser27Gly) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- gnomAD 2-26254444-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available