S29L (p.Ser29Leu) variant of G6PD (P11413)
S29L (p.Ser29Leu) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- cosmic curated COSV54838
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.37
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available