D10H (p.Asp10His) variant of MYH11 (Myosin-11)
D10H (p.Asp10His) 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 0.60 / 1. The record also includes population frequency data and structural context.
D10H (p.Asp10His) variant details
- p.Asp10His
- TOPMed rs2043958315
- gnomAD rs2043958315
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.04
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available