A19V (p.Ala19Val) variant of H6PD (O95479)
A19V (p.Ala19Val) 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.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ExAC rs778041712
- TOPMed rs778041712
- gnomAD rs778041712
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.55
- CADD 25.30
- PolyPhen-2 0.40
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available