H1054D (p.His1054Asp) variant of CFTR (P13569)
H1054D (p.His1054Asp) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
H1054D (p.His1054Asp) variant details
- p.His1054Asp
- rs397508510
- ClinGen CA327070
- ClinVar RCV000046801
- ClinVar RCV000781263
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 0.98
- CADD 26.10
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)