Q23L (p.Gln23Leu) variant of H6PD (O95479)
Q23L (p.Gln23Leu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD 1-9245002-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.03
- CADD 7.71
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available