P5R (p.Pro5Arg) variant of CFTR (P13569)
P5R (p.Pro5Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs193922501
- ClinGen CA368981180
- ClinVar RCV003617678
- ClinVar RCV005934716
- Conflicting interpretations
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.90
- MetaSVM 0.98
- CADD 26.40
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-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)