W30C (p.Trp30Cys) variant of MYH11 (Myosin-11)
W30C (p.Trp30Cys) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W30C (p.Trp30Cys) variant details
- p.Trp30Cys
- gnomAD rs1204156266
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.76
- CADD 24.40
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available