P39L (p.Pro39Leu) variant of MYLK (Q15746)
P39L (p.Pro39Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- ExAC rs779238932
- TOPMed rs779238932
- gnomAD rs779238932
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.58
- SIFT 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available