A32T (p.Ala32Thr) variant of MYH11 (Myosin-11)
A32T (p.Ala32Thr) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs765295579
- ClinGen CA306625
- ClinVar RCV000182539
- ClinVar RCV001185745
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Aortic aneurysm, familial thoracic 4; Visceral myo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)