M125V (p.Met125Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
M125V (p.Met125Val) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
M125V (p.Met125Val) variant details
- p.Met125Val
- rs121912677
- ClinGen CA019762
- ClinVar RCV000019992
- UniProt VAR 046502
- Pathogenic
- Atrial septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.56
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.01
- EVE 0.57
- MutPred 0.73
- ClinVar: Pathogenic (Atrial septal defect 5)
- EBI: Pathogenic (in ASD5)
- UniProt: Pathogenic (in ASD5)
- Structural context available
- Cited in: Alpha-cardiac actin mutations produce atrial septal defects. (PMID 17947298)