E74K (p.Glu74Lys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E74K (p.Glu74Lys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- gnomAD rs1352413131
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.88
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- CADD 28.70
- PolyPhen-2 0.79
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available