A21T (p.Ala21Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A21T (p.Ala21Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic cardiomyopathy 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs1270508243
- ClinGen CA391633280
- ClinVar RCV002900643
- ClinVar RCV003167924
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic cardiomyopathy 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)