V16A (p.Val16Ala) variant of MYH11 (Myosin-11)
V16A (p.Val16Ala) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- rs778352596
- ClinGen CA7923129
- ClinVar RCV001969716
- ExAC rs778352596
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)