R64W (p.Arg64Trp) variant of KMT2D (O14686)
R64W (p.Arg64Trp) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs761525910
- ClinGen CA6548770
- ClinVar RCV003115013
- ExAC rs761525910
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.49
- MetaLR 0.51
- MetaSVM -0.25
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)