A35T (p.Ala35Thr) variant of ACTN2 (Alpha-actinin-2)
A35T (p.Ala35Thr) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs2527438420
- ClinGen CA345358406
- ClinVar RCV003808791
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.20
- CADD 25.50
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-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)