V63L (p.Val63Leu) variant of KMT2D (O14686)
V63L (p.Val63Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V63L (p.Val63Leu) variant details
- p.Val63Leu
- rs767327365
- ExAC rs767327365
- TOPMed rs767327365
- gnomAD rs767327365
- Likely benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.30
- MetaLR 0.25
- MetaSVM -0.81
- CADD 6.82
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Likely benign (Kabuki syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)