F8L (p.Phe8Leu) variant of HADHB (P55084)
F8L (p.Phe8Leu) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- rs775035854
- gnomAD 2-26254271-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Population evidence available
- Structural context available
- Literature evidence available