P41R (p.Pro41Arg) variant of CFTR (P13569)
P41R (p.Pro41Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- rs2484968302
- ClinGen CA368987287
- ClinVar RCV003311482
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.59
- MetaSVM 0.09
- CADD 22.30
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- 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)