L3564F (p.Leu3564Phe) variant of KMT2D (O14686)
L3564F (p.Leu3564Phe) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
L3564F (p.Leu3564Phe) variant details
- p.Leu3564Phe
- rs2120452029
- ClinGen CA384727338
- NCI-TCGA Cosmic COSV9997
- ClinVar RCV001962565
- Likely pathogenic
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.98
- MetaLR 0.21
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Likely pathogenic (in BCAHH)
- UniProt: Likely pathogenic (in BCAHH)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)