G48V (p.Gly48Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G48V (p.Gly48Val) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- NCI-TCGA Cosmic COSV9929
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available