Y55C (p.Tyr55Cys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
Y55C (p.Tyr55Cys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- gnomAD 15-34793535-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.96
- MetaLR 0.92
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available