A12A (p.Ala12Ala) variant of H6PD (O95479)
A12A (p.Ala12Ala) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs1641116199
- gnomAD 1-9244970-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 8.92
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available