A16S (p.Ala16Ser) variant of KMT2D (O14686)
A16S (p.Ala16Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- rs1330280764
- ClinGen CA384691205
- ClinVar RCV002775146
- gnomAD rs1330280764
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.35
- MetaLR 0.27
- MetaSVM -0.75
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)