G54R (p.Gly54Arg) variant of AQP5 (Aquaporin-5)
G54R (p.Gly54Arg) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD 12-49962175-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available