R23G (p.Arg23Gly) variant of MYLK (Q15746)
R23G (p.Arg23Gly) 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; Aortic aneurysm, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- rs767799002
- ClinGen CA073444
- cosmic curated COSV10525
- ClinVar RCV003527033
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.02
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00015)
- 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)