E101E (p.Glu101Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E101E (p.Glu101Glu) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E101E (p.Glu101Glu) variant details
- p.Glu101Glu
- rs1391018363
- gnomAD 15-34793396-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available