A34V (p.Ala34Val) variant of MYLK (Q15746)
A34V (p.Ala34Val) in MYLK (Q15746) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- ExAC rs773146142
- TOPMed rs773146142
- gnomAD rs773146142
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.12
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.19
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available