S54T (p.Ser54Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S54T (p.Ser54Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- gnomAD rs1478666795
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.56
- MetaLR 0.76
- MetaSVM 0.48
- CADD 24.50
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available