Q44K (p.Gln44Lys) variant of H6PD (O95479)
Q44K (p.Gln44Lys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- ExAC rs746398496
- TOPMed rs746398496
- gnomAD rs746398496
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- MetaLR 0.34
- MetaSVM -0.54
- CADD 23.50
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available