A69A (p.Ala69Ala) variant of H6PD (O95479)
A69A (p.Ala69Ala) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A69A (p.Ala69Ala) variant details
- p.Ala69Ala
- gnomAD 1-9245141-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 7.96
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available