P15L (p.Pro15Leu) variant of KMT2D (O14686)
P15L (p.Pro15Leu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs756336640
- ClinGen CA6548818
- ClinVar RCV001995722
- ExAC rs756336640
- Likely benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.54
- CADD 24.30
- PolyPhen-2 0.33
- 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)