K8R (p.Lys8Arg) variant of CFTR (P13569)
K8R (p.Lys8Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CFTR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- rs1204115625
- ClinGen CA368981215
- ClinVar RCV001158547
- TOPMed rs1204115625
- Uncertain significance
- CFTR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.39
- MetaSVM -0.67
- CADD 21.80
- ClinVar: Uncertain significance (CFTR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available