I44V (p.Ile44Val) variant of MYLK (Q15746)
I44V (p.Ile44Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- gnomAD rs1382060732
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- CADD 1.73
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available