N48K (p.Asn48Lys) variant of CFTR (P13569)
N48K (p.Asn48Lys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- rs771701007
- ExAC rs771701007
- TOPMed rs771701007
- gnomAD rs771701007
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.38
- MetaSVM -0.59
- CADD 14.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)