E4Q (p.Glu4Gln) variant of AQP1 (Aquaporin-1)
E4Q (p.Glu4Gln) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- gnomAD rs1401166675
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.88
- MetaLR 0.90
- MetaSVM 0.99
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available