T49A (p.Thr49Ala) variant of MYLK (Q15746)
T49A (p.Thr49Ala) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- rs1276195216
- ClinGen CA354236418
- ClinVar RCV003313309
- ClinVar RCV004167812
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.58
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- 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)