E74D (p.Glu74Asp) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E74D (p.Glu74Asp) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- gnomAD rs1298902768
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- MetaLR 0.92
- MetaSVM 0.83
- CADD 23.20
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available