N48H (p.Asn48His) variant of CFTR (P13569)
N48H (p.Asn48His) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N48H (p.Asn48His) variant details
- p.Asn48His
- rs1248202161
- ClinGen CA368987414
- ClinVar RCV001909808
- ClinVar RCV002469429
- Uncertain significance
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.65
- CADD 14.70
- ClinVar: Uncertain significance (not specified; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.02)
- 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)