T2A (p.Thr2Ala) variant of HADHB (P55084)
T2A (p.Thr2Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- gnomAD 2-26254258-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available