Q20R (p.Gln20Arg) variant of H6PD (O95479)
Q20R (p.Gln20Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- TOPMed rs1423782229
- gnomAD rs1423782229
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.92
- CADD 22.80
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available