P12T (p.Pro12Thr) variant of HADHB (P55084)
P12T (p.Pro12Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 2-26254288-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.30
- CADD 17.50
- PolyPhen-2 0.08
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available