T116M (p.Thr116Met) variant of MYH11 (Myosin-11)
T116M (p.Thr116Met) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T116M (p.Thr116Met) variant details
- p.Thr116Met
- rs1220795088
- ClinGen CA394882926
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55551
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)