R23S (p.Arg23Ser) variant of MYLK (Q15746)
R23S (p.Arg23Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- rs146297620
- ClinGen CA073466
- ClinVar RCV001419212
- ClinVar RCV002372398
- Likely benign
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.04
- CADD 7.34
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely benign (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)