H25Q (p.His25Gln) variant of H6PD (O95479)
H25Q (p.His25Gln) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H25Q (p.His25Gln) variant details
- p.His25Gln
- rs770903607
- gnomAD 1-9244928-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 20.50
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available