I23T (p.Ile23Thr) variant of HADHB (P55084)
I23T (p.Ile23Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- gnomAD 2-26261061-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 1.41
- Population evidence available
- Structural context available
- Literature evidence available