Q18P (p.Gln18Pro) variant of H6PD (O95479)
Q18P (p.Gln18Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q18P (p.Gln18Pro) variant details
- p.Gln18Pro
- gnomAD 1-9244987-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available