T247M (p.Thr247Met) variant of ACTN2 (Alpha-actinin-2)
T247M (p.Thr247Met) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy; ACTN2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T247M (p.Thr247Met) variant details
- p.Thr247Met
- rs755492182
- ClinGen CA39722542
- cosmic curated COSV10085
- ClinVar RCV001039302
- Likely pathogenic
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy; ACTN2
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.77
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)