K73Q (p.Lys73Gln) variant of MYH11 (Myosin-11)
K73Q (p.Lys73Gln) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Connective tissue disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K73Q (p.Lys73Gln) variant details
- p.Lys73Gln
- rs147447269
- ClinGen CA306628
- ClinVar RCV000182540
- ClinVar RCV000233878
- Conflicting interpretations
- Connective tissue disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Connective tissue disorder; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- 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)