T40N (p.Thr40Asn) variant of HADHB (P55084)
T40N (p.Thr40Asn) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- gnomAD 2-26263389-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.36
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available