Q18K (p.Gln18Lys) variant of H6PD (O95479)
Q18K (p.Gln18Lys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- gnomAD 1-9244986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- MetaLR 0.15
- MetaSVM -1.03
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available