S27H (p.Ser27His) variant of H6PD (O95479)
S27H (p.Ser27His) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S27H (p.Ser27His) variant details
- p.Ser27His
- gnomAD 1-9245010-GTC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available