H609R (p.His609Arg) variant of CFTR (P13569)
H609R (p.His609Arg) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H609R (p.His609Arg) variant details
- p.His609Arg
- rs397508310
- ClinGen CA326692
- ClinVar RCV000577469
- ClinVar RCV001001757
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.81
- ESM-1b 0.11
- AlphaMissense 0.24
- MetaLR 0.51
- MetaSVM 0.19
- CADD 25.30
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)