A13T (p.Ala13Thr) variant of MYL2 (P10916)
A13T (p.Ala13Thr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs104894363
- ClinGen CA010242
- cosmic curated COSV57407
- ClinVar RCV000015108
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.53
- CADD 17.20
- PolyPhen-2 0.11
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+… (PMID 11102452)
- Cited in: Disease variants in genomes of 44 centenarians. (PMID 25333069)