Q170H (p.Gln170His) variant of KMT2D (O14686)
Q170H (p.Gln170His) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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.
Q170H (p.Gln170His) variant details
- p.Gln170His
- UniProt VAR 074216
- Likely pathogenic
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.29
- AlphaMissense 0.34
- MetaLR 0.22
- MetaSVM -0.70
- CADD 35.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Variant of uncertain significance (in KABUK1)
- UniProt: Uncertain significance (in KABUK1)
- Population evidence available
- Structural context available
- Cited in: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. (PMID 23320472)
- Cited in: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (PMID 20711175)