P36L (p.Pro36Leu) variant of KMT2D (O14686)
P36L (p.Pro36Leu) 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.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs751629550
- ClinGen CA6548795
- ClinVar RCV003753401
- ExAC rs751629550
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.84
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)