T2N (p.Thr2Asn) variant of HADHB (P55084)
T2N (p.Thr2Asn) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T2N (p.Thr2Asn) variant details
- p.Thr2Asn
- gnomAD 2-26254259-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available