H103Q (p.His103Gln) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H103Q (p.His103Gln) 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 not provided; Atrial septal defect 5; Hypertrophic cardiomyopathy 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
H103Q (p.His103Gln) variant details
- p.His103Gln
- rs769303249
- ClinGen CA16607774
- ClinVar RCV000418492
- ClinVar RCV000699207
- Uncertain significance
- not provided; Atrial septal defect 5; Hypertrophic cardiomyopathy 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.61
- EVE 0.37
- MutPred 0.66
- ClinVar: Uncertain significance (not provided; Atrial septal defect 5; Hypertrophic cardiomyopath)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)