V24F (p.Val24Phe) variant of MYLK (Q15746)
V24F (p.Val24Phe) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- rs764755866
- ClinGen CA073471
- ClinVar RCV002367366
- ClinVar RCV004809826
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.14
- CADD 3.15
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- 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)