E4G (p.Glu4Gly) variant of AQP1 (Aquaporin-1)
E4G (p.Glu4Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- gnomAD 7-30911920-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.90
- MetaLR 0.90
- MetaSVM 1.00
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available