P5S (p.Pro5Ser) variant of CFTR (P13569)
P5S (p.Pro5Ser) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cystic fibrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs2484928867
- ClinGen CA368981177
- ClinVar RCV003619059
- Conflicting interpretations
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- ESM-1b 0.36
- AlphaMissense 0.59
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)