R65C (p.Arg65Cys) variant of KMT2D (O14686)
R65C (p.Arg65Cys) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KMT2D-related disorder; Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R65C (p.Arg65Cys) variant details
- p.Arg65Cys
- rs1189364625
- ClinGen CA384689291
- ClinVar RCV002613342
- ClinVar RCV004529159
- Conflicting interpretations
- KMT2D-related disorder; Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.41
- MetaLR 0.34
- MetaSVM -0.15
- CADD 25.90
- PolyPhen-2 0.68
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (KMT2D-related disorder; Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)