A60S (p.Ala60Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A60S (p.Ala60Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- rs1555418912
- ClinGen CA391632078
- ClinVar RCV004521291
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.83
- EVE 0.64
- MutPred 0.85
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available