A80S (p.Ala80Ser) variant of AQP3 (Aquaporin-3)
A80S (p.Ala80Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- ExAC rs781532774
- gnomAD rs781532774
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.30
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.07
- CADD 23.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available