T13N (p.Thr13Asn) variant of HADHB (P55084)
T13N (p.Thr13Asn) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T13N (p.Thr13Asn) variant details
- p.Thr13Asn
- gnomAD 2-26254292-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.18
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available