S22L (p.Ser22Leu) variant of MYLK (Q15746)
S22L (p.Ser22Leu) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs1402959688
- ClinGen CA354236741
- ClinVar RCV003527297
- gnomAD rs1402959688
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.14
- CADD 24.20
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)