C58R (p.Cys58Arg) variant of KMT2D (O14686)
C58R (p.Cys58Arg) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C58R (p.Cys58Arg) variant details
- p.Cys58Arg
- rs955948792
- ClinGen CA236624350
- ClinVar RCV002843418
- Ensembl rs955948792
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.28
- MetaLR 0.21
- MetaSVM -0.85
- CADD 17.50
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)