Q72R (p.Gln72Arg) variant of H6PD (O95479)
Q72R (p.Gln72Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- Ensembl rs1641127154
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -0.94
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available