I50V (p.Ile50Val) variant of MYH11 (Myosin-11)
I50V (p.Ile50Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- rs2043952063
- ClinGen CA395198573
- ClinVar RCV003818860
- Ensembl rs2043952063
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.25
- 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
- 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)