E4V (p.Glu4Val) variant of AQP5 (Aquaporin-5)
E4V (p.Glu4Val) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E4V (p.Glu4Val) variant details
- p.Glu4Val
- TOPMed rs1414511990
- gnomAD rs1414511990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available