K9R (p.Lys9Arg) variant of HADHB (P55084)
K9R (p.Lys9Arg) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- gnomAD 2-26254280-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.28
- CADD 8.26
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available