A32S (p.Ala32Ser) variant of AQP1 (Aquaporin-1)
A32S (p.Ala32Ser) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- TOPMed rs1193745061
- gnomAD rs1193745061
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.73
- MetaLR 0.89
- MetaSVM 0.91
- CADD 28.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available