K6N (p.Lys6Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
K6N (p.Lys6Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- rs1481598770
- ClinGen CA382975627
- ClinVar RCV002408243
- ClinVar RCV003230746
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -0.92
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.457