Q52R (p.Gln52Arg) variant of KMT2D (O14686)
Q52R (p.Gln52Arg) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- rs1565825639
- ClinGen CA384689914
- ClinVar RCV003864241
- Ensembl rs1565825639
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.31
- MetaLR 0.38
- MetaSVM -0.51
- CADD 21.00
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)