K16E (p.Lys16Glu) variant of HADHB (P55084)
K16E (p.Lys16Glu) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- gnomAD 2-26254300-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- CADD 6.94
- PolyPhen-2 0.00
- SIFT 0.99
- Population evidence available
- Structural context available
- Literature evidence available