D29N (p.Asp29Asn) variant of ACTN2 (Alpha-actinin-2)
D29N (p.Asp29Asn) 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 not provided; Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- rs750574123
- ClinGen CA1472702
- cosmic curated COSV63976
- ClinVar RCV002291978
- Uncertain significance
- not provided; Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.25
- CADD 26.50
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1AA; Primary familial hyper)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)