R65S (p.Arg65Ser) variant of KMT2D (O14686)
R65S (p.Arg65Ser) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R65S (p.Arg65Ser) variant details
- p.Arg65Ser
- rs1189364625
- ClinGen CA384689298
- ClinVar RCV002008555
- TOPMed rs1189364625
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- MetaLR 0.26
- MetaSVM -0.71
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)