D4Y (p.Asp4Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D4Y (p.Asp4Tyr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D4Y (p.Asp4Tyr) variant details
- p.Asp4Tyr
- gnomAD rs730880408
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.65
- MetaLR 0.85
- MetaSVM 0.77
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available