Q20L (p.Gln20Leu) variant of H6PD (O95479)
Q20L (p.Gln20Leu) 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.
Q20L (p.Gln20Leu) variant details
- p.Gln20Leu
- gnomAD 1-9244993-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.80
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available