Q18R (p.Gln18Arg) variant of H6PD (O95479)
Q18R (p.Gln18Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 1-9244987-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -1.05
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available