G13S (p.Gly13Ser) variant of AQP7 (Aquaporin-7)
G13S (p.Gly13Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- TOPMed rs1825754264
- gnomAD rs1825754264
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.16
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available