M46K (p.Met46Lys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
M46K (p.Met46Lys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
M46K (p.Met46Lys) variant details
- p.Met46Lys
- gnomAD 15-34793562-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- MetaLR 0.81
- MetaSVM 0.65
- CADD 25.00
- PolyPhen-2 0.27
- SIFT 0.88
- Population evidence available
- Structural context available
- Literature evidence available