R64Q (p.Arg64Gln) variant of KMT2D (O14686)
R64Q (p.Arg64Gln) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs587778462
- ClinGen CA160533
- ClinVar RCV000121393
- ClinVar RCV003764845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.31
- MetaLR 0.44
- MetaSVM -0.30
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)