Q56* (p.Gln56Ter) variant of KMT2D (O14686)
Q56* (p.Gln56Ter) in KMT2D (O14686) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- rs1592162790
- ClinGen CA384689736
- NCI-TCGA Cosmic COSV5644
- ClinVar RCV001029731
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.07
- MetaLR 0.26
- MetaSVM -0.82
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)