N1303Y (p.Asn1303Tyr) variant of CFTR (P13569)
N1303Y (p.Asn1303Tyr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary pancreatitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N1303Y (p.Asn1303Tyr) variant details
- p.Asn1303Tyr
- rs121909042
- ClinGen CA368978217
- ClinVar RCV002248991
- gnomAD rs121909042
- Likely pathogenic
- Hereditary pancreatitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.93
- ESM-1b 0.00
- AlphaMissense 0.81
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.50
- ClinVar: Likely pathogenic (Hereditary pancreatitis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: PRSS1-Related Hereditary Pancreatitis. (PMID 22379635)
- Cited in: Pancreatitis Overview. (PMID 24624459)