A17G (p.Ala17Gly) variant of KMT2D (O14686)
A17G (p.Ala17Gly) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs769271092
- ClinGen CA384691049
- ClinVar RCV001884268
- ExAC rs769271092
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.35
- MetaLR 0.56
- MetaSVM 0.31
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)