H25P (p.His25Pro) variant of H6PD (O95479)
H25P (p.His25Pro) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H25P (p.His25Pro) variant details
- p.His25Pro
- gnomAD 1-9244926-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available