A50V (p.Ala50Val) variant of MYLK (Q15746)
A50V (p.Ala50Val) 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; not provided; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs369576521
- ClinGen CA067424
- ClinVar RCV000489357
- ClinVar RCV000769346
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.22
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)