S28G (p.Ser28Gly) variant of AQP1 (Aquaporin-1)
S28G (p.Ser28Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- ExAC rs762860185
- gnomAD rs762860185
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.56
- MetaLR 0.44
- MetaSVM -0.27
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available