P34S (p.Pro34Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P34S (p.Pro34Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs1451590510
- NCI-TCGA Cosmic COSV9929
- gnomAD rs1451590510
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.95
- EVE 0.32
- MutPred 0.92
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available