V63E (p.Val63Glu) variant of MYH11 (Myosin-11)
V63E (p.Val63Glu) 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 0.38 / 1. The record also includes population frequency data and structural context.
V63E (p.Val63Glu) variant details
- p.Val63Glu
- Ensembl rs2043950389
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.94
- CADD 21.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available