T8S (p.Thr8Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T8S (p.Thr8Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- ExAC rs780088008
- gnomAD rs780088008
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.55
- MetaLR 0.80
- MetaSVM 0.63
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available