A19G (p.Ala19Gly) variant of H6PD (O95479)
A19G (p.Ala19Gly) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- ExAC rs778041712
- TOPMed rs778041712
- gnomAD rs778041712
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.83
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available