A2V (p.Ala2Val) variant of MYH11 (Myosin-11)
A2V (p.Ala2Val) 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; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs150600829
- ClinGen CA278998957
- cosmic curated COSV55551
- ClinVar RCV000774262
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)