M46R (p.Met46Arg) variant of ACTA2 (Actin, aortic smooth muscle)
M46R (p.Met46Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
M46R (p.Met46Arg) variant details
- p.Met46Arg
- rs1554841843
- ClinGen CA377513550
- ClinVar RCV000498466
- Ensembl rs1554841843
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 0.45
- EVE 0.51
- MutPred 0.79
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available