R10S (p.Arg10Ser) variant of AQP3 (Aquaporin-3)
R10S (p.Arg10Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- ExAC rs766881900
- gnomAD rs766881900
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.34
- AlphaMissense 0.13
- MetaLR 0.55
- MetaSVM -0.42
- CADD 23.50
- PolyPhen-2 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available