A38E (p.Ala38Glu) variant of AQP5 (Aquaporin-5)
A38E (p.Ala38Glu) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- rs398123054
- ClinGen CA144807
- ClinVar RCV000055668
- ClinVar RCV003556140
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- CADD 15.50
- PolyPhen-2 0.31
- SIFT 0.06
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in PPKB)
- UniProt: Pathogenic (in PPKB)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar… (PMID 23830519)
- Cited in: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. (PMID 7531539)