T49I (p.Thr49Ile) variant of MYLK (Q15746)
T49I (p.Thr49Ile) in MYLK (Q15746) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs1337572355
- ClinGen CA354236411
- ClinVar RCV001574893
- ClinVar RCV003298934
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.19
- CADD 24.10
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)