K9E (p.Lys9Glu) variant of HADHB (P55084)
K9E (p.Lys9Glu) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD 2-26254279-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.39
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available