A26E (p.Ala26Glu) variant of MYO7A (Unconventional myosin-VIIa)
A26E (p.Ala26Glu) 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 not provided; Usher syndrome type 1B; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- rs369125667
- ClinGen CA278728
- ClinVar RCV000154340
- ClinVar RCV002516104
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 1B; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.85
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 1B; Rare genetic deafness)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)