I21T (p.Ile21Thr) variant of MYH11 (Myosin-11)
I21T (p.Ile21Thr) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Aortic aneurysm, familial thoracic 4; Familial thoracic aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs777372840
- ClinGen CA7923126
- ClinVar RCV001057777
- ClinVar RCV001182335
- Conflicting interpretations
- not specified; Aortic aneurysm, familial thoracic 4; Familial thoracic aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not specified; Aortic aneurysm, familial thoracic 4; Familial th)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)