G66S (p.Gly66Ser) variant of AQP5 (Aquaporin-5)
G66S (p.Gly66Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G66S (p.Gly66Ser) variant details
- p.Gly66Ser
- gnomAD rs1483056077
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.64
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available