L22L (p.Leu22Leu) variant of H6PD (O95479)
L22L (p.Leu22Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- gnomAD 1-9245000-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 5.73
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available