E98Q (p.Glu98Gln) variant of MYH6 (Myosin-6)
E98Q (p.Glu98Gln) in MYH6 (Myosin-6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E98Q (p.Glu98Gln) variant details
- p.Glu98Gln
- 1000Genomes rs140596256
- ESP rs140596256
- ExAC rs140596256
- TOPMed rs140596256
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available