I177F (p.Ile177Phe) variant of AQP5 (Aquaporin-5)
I177F (p.Ile177Phe) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Palmoplantar keratoderma, Bothnian type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
I177F (p.Ile177Phe) variant details
- p.Ile177Phe
- rs398123056
- ClinGen CA144810
- ClinVar RCV000055671
- UniProt VAR 070445
- Pathogenic
- Palmoplantar keratoderma, Bothnian type
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.31
- MetaLR 0.78
- MetaSVM 0.52
- PolyPhen-2 0.06
- SIFT 0.06
- EVE 0.29
- ClinVar: Pathogenic (Palmoplantar keratoderma, Bothnian type)
- EBI: Pathogenic (in PPKB)
- UniProt: Pathogenic (in PPKB)
- Structural context available
- Cited in: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar… (PMID 23830519)
- Cited in: Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type. (PMID 23867895)