G25S (p.Gly25Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G25S (p.Gly25Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- TOPMed rs1891781693
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.11
- CADD 29.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available