K16R (p.Lys16Arg) variant of HADHB (P55084)
K16R (p.Lys16Arg) 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.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- gnomAD 2-26254301-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.24
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available