S89P (p.Ser89Pro) variant of AQP7 (Aquaporin-7)
S89P (p.Ser89Pro) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S89P (p.Ser89Pro) variant details
- p.Ser89Pro
- gnomAD rs1198707602
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.93
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available