E4K (p.Glu4Lys) variant of AQP1 (Aquaporin-1)
E4K (p.Glu4Lys) in AQP1 (Aquaporin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs1401166675
- NCI-TCGA Cosmic COSV6126
- gnomAD rs1401166675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.89
- MetaLR 0.92
- MetaSVM 1.05
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available