K43K (p.Lys43Lys) variant of HADHB (P55084)
K43K (p.Lys43Lys) in HADHB (P55084) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K43K (p.Lys43Lys) variant details
- p.Lys43Lys
- rs2147809837
- gnomAD 2-26263399-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 8.85
- Population evidence available
- Structural context available
- Literature evidence available