H58S (p.His58Ser) variant of H6PD (O95479)
H58S (p.His58Ser) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H58S (p.His58Ser) variant details
- p.His58Ser
- rs766269667
- gnomAD 1-9245100-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 23.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available