K11N (p.Lys11Asn) variant of KMT2D (O14686)
K11N (p.Lys11Asn) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K11N (p.Lys11Asn) variant details
- p.Lys11Asn
- rs754250785
- ClinGen CA6548821
- ClinVar RCV002715222
- ExAC rs754250785
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.36
- MetaLR 0.21
- MetaSVM -0.70
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)