V8M (p.Val8Met) variant of ACTN2 (Alpha-actinin-2)
V8M (p.Val8Met) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy; not sp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs551141480
- ClinGen CA1472694
- NCI-TCGA Cosmic COSV6397
- Likely benign
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy; not sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)