T13I (p.Thr13Ile) variant of HADHB (P55084)
T13I (p.Thr13Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- gnomAD 2-26254292-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.23
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available