A116S (p.Ala116Ser) variant of AQP3 (Aquaporin-3)
A116S (p.Ala116Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A116S (p.Ala116Ser) variant details
- p.Ala116Ser
- gnomAD rs1826868366
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.51
- AlphaMissense 0.98
- MetaLR 0.27
- MetaSVM -0.10
- CADD 18.00
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available