P34L (p.Pro34Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P34L (p.Pro34Leu) 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 Left ventricular dilatation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1373760624
- ClinGen CA391633107
- ClinVar RCV000678695
- TOPMed rs1373760624
- Uncertain significance
- Left ventricular dilatation
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.97
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Left ventricular dilatation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available