L42L (p.Leu42Leu) variant of H6PD (O95479)
L42L (p.Leu42Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1570088162
- gnomAD 1-9245058-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 9.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available