P6A (p.Pro6Ala) variant of ACTN2 (Alpha-actinin-2)
P6A (p.Pro6Ala) 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 Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs1428900516
- ClinGen CA345358082
- ClinVar RCV003788782
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.21
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)