E450Q (p.Glu450Gln) variant of MYO7A (Unconventional myosin-VIIa)
E450Q (p.Glu450Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E450Q (p.Glu450Gln) variant details
- p.Glu450Gln
- rs1269622956
- ClinGen CA381935196
- ClinVar RCV000670043
- ClinVar RCV001543540
- Pathogenic/Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.89
- CADD 24.50
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 11; Autosomal reces)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PMID 8900236)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)