E22K (p.Glu22Lys) variant of MYL2 (P10916)
E22K (p.Glu22Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MYL2-related disorder; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs104894368
- ClinGen CA010513
- NCI-TCGA Cosmic COSV5740
- cosmic curated COSV57405
- Pathogenic/Likely pathogenic
- MYL2-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.71
- CADD 27.60
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MYL2-related disorder; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+… (PMID 11102452)
- Cited in: Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in… (PMID 12404107)