I77V (p.Ile77Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I77V (p.Ile77Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- rs397517056
- ClinGen CA019696
- ClinVar RCV000038322
- ClinVar RCV004018868
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.70
- MetaLR 0.81
- MetaSVM 0.60
- CADD 23.00
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available