K14R (p.Lys14Arg) variant of CFTR (P13569)
K14R (p.Lys14Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- rs772774651
- ClinGen CA368981305
- ClinVar RCV003144832
- TOPMed rs772774651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.84
- CADD 22.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available