L76H (p.Leu76His) variant of H6PD (O95479)
L76H (p.Leu76His) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L76H (p.Leu76His) variant details
- p.Leu76His
- TOPMed rs1386319292
- gnomAD rs1386319292
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.46
- MetaLR 0.94
- MetaSVM 1.10
- CADD 19.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available