D511N (p.Asp511Asn) variant of MYO7A (Unconventional myosin-VIIa)
D511N (p.Asp511Asn) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
D511N (p.Asp511Asn) variant details
- p.Asp511Asn
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68686
- TOPMed rs1953076786
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.73
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 11)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available