A20G (p.Ala20Gly) variant of AQP1 (Aquaporin-1)
A20G (p.Ala20Gly) in AQP1 (Aquaporin-1) 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.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD rs1424356551
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.35
- MetaLR 0.33
- MetaSVM -0.52
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available