A14T (p.Ala14Thr) variant of HADHB (P55084)
A14T (p.Ala14Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 2-26254294-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.20
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available