T68M (p.Thr68Met) variant of MYH6 (Myosin-6)
T68M (p.Thr68Met) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T68M (p.Thr68Met) variant details
- p.Thr68Met
- rs751285148
- ClinGen CA7116227
- NCI-TCGA Cosmic COSV6245
- cosmic curated COSV62451
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.62
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.068)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)