N123D (p.Asn123Asp) variant of AQP5 (Aquaporin-5)
N123D (p.Asn123Asp) 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 0.41 / 1. The record also includes published literature and structural context.
N123D (p.Asn123Asp) variant details
- p.Asn123Asp
- rs398123057
- ClinGen CA144811
- ClinVar RCV000055672
- UniProt VAR 070444
- Pathogenic
- Palmoplantar keratoderma, Bothnian type
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.27
- MetaLR 0.40
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.28
- EVE 0.18
- 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)