L31P (p.Leu31Pro) variant of H6PD (O95479)
L31P (p.Leu31Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- TOPMed rs986457260
- gnomAD rs986457260
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.72
- MetaLR 0.52
- MetaSVM 0.19
- CADD 28.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available