A12D (p.Ala12Asp) variant of H6PD (O95479)
A12D (p.Ala12Asp) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- ExAC rs766927941
- TOPMed rs766927941
- gnomAD rs766927941
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.65
- MetaLR 0.87
- MetaSVM 0.42
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available