A112S (p.Ala112Ser) variant of AQP3 (Aquaporin-3)
A112S (p.Ala112Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A112S (p.Ala112Ser) variant details
- p.Ala112Ser
- gnomAD rs1247288996
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.19
- AlphaMissense 0.99
- MetaLR 0.60
- MetaSVM 0.62
- CADD 21.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available