D2010N (p.Asp2010Asn) variant of MYO7A (Unconventional myosin-VIIa)
D2010N (p.Asp2010Asn) 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; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D2010N (p.Asp2010Asn) variant details
- p.Asp2010Asn
- rs755934966
- ClinGen CA6198904
- ClinVar RCV000666616
- ClinVar RCV000763284
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 11; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)