T13S (p.Thr13Ser) variant of HADHB (P55084)
T13S (p.Thr13Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- gnomAD 2-26254291-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.16
- CADD 1.13
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available