A18T (p.Ala18Thr) variant of HADHB (P55084)
A18T (p.Ala18Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD rs1671524697
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available