D218N (p.Asp218Asn) variant of MYO7A (Unconventional myosin-VIIa)
D218N (p.Asp218Asn) 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 Rare genetic deafness; not provided; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D218N (p.Asp218Asn) variant details
- p.Asp218Asn
- rs201539845
- ClinGen CA259686
- cosmic curated COSV68684
- ClinVar RCV000022815
- Pathogenic/Likely pathogenic
- Rare genetic deafness; not provided; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.65
- AlphaMissense 0.83
- MetaLR 0.61
- MetaSVM 0.37
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; not provided; Usher syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two… (PMID 21150918)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)