I78V (p.Ile78Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I78V (p.Ile78Val) 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 Hypertrophic cardiomyopathy. The record also includes variant effect predictions and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- Ensembl rs2140432101
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- MetaLR 0.96
- MetaSVM 1.06
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available