S54C (p.Ser54Cys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S54C (p.Ser54Cys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- gnomAD 15-34793538-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.73
- MetaLR 0.81
- MetaSVM 0.78
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available