A103V (p.Ala103Val) variant of G6PD (P11413)
A103V (p.Ala103Val) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- TOPMed rs1364562286
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.51
- CADD 20.10
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available