L31M (p.Leu31Met) variant of H6PD (O95479)
L31M (p.Leu31Met) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- TOPMed rs944435283
- gnomAD rs944435283
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- MetaLR 0.40
- MetaSVM -0.16
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available