P60A (p.Pro60Ala) variant of MYLK (Q15746)
P60A (p.Pro60Ala) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P60A (p.Pro60Ala) variant details
- p.Pro60Ala
- rs2063229998
- ClinGen CA354245468
- ClinVar RCV001063205
- Ensembl rs2063229998
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)