F47L (p.Phe47Leu) variant of H6PD (O95479)
F47L (p.Phe47Leu) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- gnomAD 1-9240009-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available