V56F (p.Val56Phe) variant of MYLK (Q15746)
V56F (p.Val56Phe) 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 0.73 / 1. The record also includes population frequency data and structural context.
V56F (p.Val56Phe) variant details
- p.Val56Phe
- ESP rs369537401
- ExAC rs369537401
- TOPMed rs369537401
- gnomAD rs369537401
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.65
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available