F92Y (p.Phe92Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
F92Y (p.Phe92Tyr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F92Y (p.Phe92Tyr) variant details
- p.Phe92Tyr
- gnomAD rs1480127658
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available