M20T (p.Met20Thr) variant of ACTN2 (Alpha-actinin-2)
M20T (p.Met20Thr) 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 Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy. 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.
M20T (p.Met20Thr) variant details
- p.Met20Thr
- rs776456711
- ClinGen CA1472699
- ClinVar RCV001374171
- ClinVar RCV001806160
- Uncertain significance
- Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.60
- SIFT 0.24
- ClinVar: Uncertain significance (Myopathy, congenital, with structured cores and z-line abnormali)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.2e-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)