C10S (p.Cys10Ser) variant of H6PD (O95479)
C10S (p.Cys10Ser) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C10S (p.Cys10Ser) variant details
- p.Cys10Ser
- rs760670274
- gnomAD 1-9244962-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 22.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available