T5N (p.Thr5Asn) variant of HADHB (P55084)
T5N (p.Thr5Asn) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- gnomAD 2-26254268-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.24
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available