I21T (p.Ile21Thr) variant of ACTN2 (Alpha-actinin-2)
I21T (p.Ile21Thr) 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; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs2527438243
- ClinVar RCV004576054
- ClinVar RCV005220953
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- 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)