A2009D (p.Ala2009Asp) variant of MYO7A (Unconventional myosin-VIIa)
A2009D (p.Ala2009Asp) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Usher syndrome; Prelingual sensorineural hearing impairment; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A2009D (p.Ala2009Asp) variant details
- p.Ala2009Asp
- rs1173853484
- ClinGen CA381934605
- ClinVar RCV000988617
- ClinVar RCV001060649
- Conflicting interpretations
- Usher syndrome; Prelingual sensorineural hearing impairment; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.85
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Usher syndrome; Prelingual sensorineural hearing impairment; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available