P205S (p.Pro205Ser) variant of CFTR (P13569)
P205S (p.Pro205Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P205S (p.Pro205Ser) variant details
- p.Pro205Ser
- rs121908803
- ClinGen CA328130
- NCI-TCGA Cosmic COSV5004
- ClinVar RCV000056400
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- ESM-1b 0.67
- AlphaMissense 0.78
- MetaLR 0.87
- MetaSVM 0.92
- CADD 24.70
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Cited in: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a… (PMID 7505694)
- Cited in: Cystic Fibrosis. (PMID 20301428)