M1L (p.Met1Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
M1L (p.Met1Leu) 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 0.59 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1891784379
- ClinGen CA391633546
- ClinVar RCV003380020
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.70
- MetaSVM 0.30
- PolyPhen-2 0.01
- MutPred 0.97
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available