A32P (p.Ala32Pro) variant of MYH11 (Myosin-11)
A32P (p.Ala32Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs765295579
- ClinGen CA7923121
- ClinVar RCV001886458
- ExAC rs765295579
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.68
- CADD 25.20
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)