S35A (p.Ser35Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S35A (p.Ser35Ala) 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 Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
S35A (p.Ser35Ala) variant details
- p.Ser35Ala
- rs1595761987
- ClinGen CA391633101
- ClinVar RCV000795462
- Ensembl rs1595761987
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.23
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 0.05
- EVE 0.20
- MutPred 0.89
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)