E17G (p.Glu17Gly) variant of AQP1 (Aquaporin-1)
E17G (p.Glu17Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 7-30911959-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available