P104L (p.Pro104Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P104L (p.Pro104Leu) 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 Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 11; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P104L (p.Pro104Leu) variant details
- p.Pro104Leu
- rs1405829098
- ClinGen CA391631514
- ClinVar RCV000788301
- ClinVar RCV001319564
- Uncertain significance
- Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 11; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 11; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)