E19Q (p.Glu19Gln) variant of MYO7A (Unconventional myosin-VIIa)
E19Q (p.Glu19Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- ExAC rs781869170
- gnomAD rs781869170
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.73
- CADD 22.70
- PolyPhen-2 0.40
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available