R2001Q (p.Arg2001Gln) variant of KMT2D (O14686)
R2001Q (p.Arg2001Gln) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R2001Q (p.Arg2001Gln) variant details
- p.Arg2001Gln
- rs2120553637
- ClinGen CA384627127
- ClinVar RCV002471448
- Ensembl rs2120553637
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.59
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)