Q39K (p.Gln39Lys) variant of HADHB (P55084)
Q39K (p.Gln39Lys) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q39K (p.Gln39Lys) variant details
- p.Gln39Lys
- gnomAD 2-26263385-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available