D3E (p.Asp3Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D3E (p.Asp3Glu) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- 1000Genomes rs535623090
- gnomAD rs535623090
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- MetaLR 0.64
- MetaSVM 0.09
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available