P6R (p.Pro6Arg) variant of ACTN2 (Alpha-actinin-2)
P6R (p.Pro6Arg) 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 0.40 / 1. The record also includes published literature and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs2102851212
- ClinGen CA345358086
- ClinVar RCV001974686
- Ensembl rs2102851212
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.14
- MetaLR 0.33
- MetaSVM -0.90
- PolyPhen-2 0.01
- SIFT 0.04
- MutPred 0.25
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)