S9L (p.Ser9Leu) variant of MYLK (Q15746)
S9L (p.Ser9Leu) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs779148876
- ClinGen CA069134
- cosmic curated COSV10740
- ClinVar RCV001757341
- Conflicting interpretations
- not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Aortic aneurysm, familial thoracic 7; Familial tho)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00069)
- 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)