R65H (p.Arg65His) variant of KMT2D (O14686)
R65H (p.Arg65His) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R65H (p.Arg65His) variant details
- p.Arg65His
- rs763644658
- ClinGen CA6548768
- ClinVar RCV002633360
- ExAC rs763644658
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.37
- MetaLR 0.27
- MetaSVM -0.73
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)