K6Q (p.Lys6Gln) variant of CBL (E3 ubiquitin-protein ligase CBL)
K6Q (p.Lys6Gln) 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 not specified; not provided; Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K6Q (p.Lys6Gln) variant details
- p.Lys6Gln
- rs746355406
- ClinGen CA6318209
- ClinVar RCV001813638
- ClinVar RCV003655341
- Uncertain significance
- not specified; not provided; Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.86
- CADD 23.20
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided; Noonan syndrome and Noonan-related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.457