P12S (p.Pro12Ser) variant of HADHB (P55084)
P12S (p.Pro12Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 2-26254288-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.26
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available