V98A (p.Val98Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V98A (p.Val98Ala) 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 Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V98A (p.Val98Ala) variant details
- p.Val98Ala
- rs1555418891
- ClinGen CA391631552
- ClinVar RCV000648297
- TOPMed rs1555418891
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.33
- EVE 0.41
- MutPred 0.75
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)