K52I (p.Lys52Ile) variant of CFTR (P13569)
K52I (p.Lys52Ile) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K52I (p.Lys52Ile) variant details
- p.Lys52Ile
- rs1562882767
- ClinGen CA368987504
- ClinVar RCV003165244
- Ensembl rs1562882767
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.42
- ESM-1b 0.42
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.01
- CADD 21.90
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)