A54A (p.Ala54Ala) variant of H6PD (O95479)
A54A (p.Ala54Ala) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs200780666
- gnomAD 1-9245096-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0818
- CADD 0.16
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Structural context available
- Literature evidence available