T13A (p.Thr13Ala) variant of HADHB (P55084)
T13A (p.Thr13Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T13A (p.Thr13Ala) variant details
- p.Thr13Ala
- gnomAD 2-26254291-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.17
- CADD 3.12
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available