V47A (p.Val47Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V47A (p.Val47Ala) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- gnomAD 15-34793559-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.83
- MetaLR 0.87
- MetaSVM 0.81
- CADD 28.80
- PolyPhen-2 0.77
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available