A6V (p.Ala6Val) variant of G6PD (P11413)
A6V (p.Ala6Val) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs1557233216
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.61
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available