H90H (p.His90His) variant of AQP4 (Aquaporin-4)
H90H (p.His90His) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H90H (p.His90His) variant details
- p.His90His
- rs564568113
- gnomAD 18-26862359-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 7.89
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available