S5A (p.Ser5Ala) variant of AQP7 (Aquaporin-7)
S5A (p.Ser5Ala) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- ExAC rs763009579
- gnomAD rs763009579
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.07
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the South Asian population (allele frequency 6.3e-05)
- Structural context available