T40S (p.Thr40Ser) variant of HADHB (P55084)
T40S (p.Thr40Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- gnomAD 2-26263388-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.27
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available