P39A (p.Pro39Ala) variant of MYH11 (Myosin-11)
P39A (p.Pro39Ala) in MYH11 (Myosin-11) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- rs761131497
- ClinGen CA7923117
- ClinVar RCV002681173
- ClinVar RCV003167607
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.51
- CADD 23.40
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)