L102R (p.Leu102Arg) variant of CFTR (P13569)
L102R (p.Leu102Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L102R (p.Leu102Arg) variant details
- p.Leu102Arg
- rs397508490
- ClinGen CA4450702
- ClinVar RCV000669903
- ExAC rs397508490
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.80
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)