T105I (p.Thr105Ile) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T105I (p.Thr105Ile) 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 0.52 / 1. The record also includes published literature and structural context.
T105I (p.Thr105Ile) variant details
- p.Thr105Ile
- rs1368192263
- ClinGen CA391631510
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV003799116
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.17
- MetaLR 0.62
- MetaSVM 0.75
- PolyPhen-2 0.97
- EVE 0.06
- MutPred 0.38
- 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)