A22V (p.Ala22Val) variant of KMT2D (O14686)
A22V (p.Ala22Val) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1347059574
- ClinGen CA384690947
- ClinVar RCV002132365
- TOPMed rs1347059574
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- MetaLR 0.24
- MetaSVM -0.55
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)