S42F (p.Ser42Phe) variant of CFTR (P13569)
S42F (p.Ser42Phe) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs143456784
- ClinGen CA325688
- ClinVar RCV000029472
- ClinVar RCV000586035
- Pathogenic
- in CF
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.63
- CADD 24.00
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. (PMID 7541510)
- Cited in: Cystic Fibrosis. (PMID 20301428)