P39T (p.Pro39Thr) variant of MYH11 (Myosin-11)
P39T (p.Pro39Thr) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs761131497
- ClinGen CA7923118
- ClinVar RCV001181172
- ClinVar RCV002559777
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.67
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)