H63H (p.His63His) variant of H6PD (O95479)
H63H (p.His63His) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H63H (p.His63His) variant details
- p.His63His
- rs753816269
- gnomAD 1-9245123-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0854
- CADD 0.67
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available