F23L (p.Phe23Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
F23L (p.Phe23Leu) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- rs193922681
- ClinGen CA019869
- ClinVar RCV000029294
- ClinVar RCV001342095
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 0.23
- EVE 0.29
- MutPred 0.86
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)