P6S (p.Pro6Ser) variant of ACTN2 (Alpha-actinin-2)
P6S (p.Pro6Ser) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs1428900516
- ClinGen CA345358083
- ClinVar RCV003797984
- TOPMed rs1428900516
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.4e-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)