P25T (p.Pro25Thr) variant of HADHB (P55084)
P25T (p.Pro25Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- gnomAD 2-26254438-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.30
- CADD 11.00
- PolyPhen-2 0.04
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available