A397D (p.Ala397Asp) variant of MYO7A (Unconventional myosin-VIIa)
A397D (p.Ala397Asp) 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 Retinal dystrophy; Usher syndrome type 1; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A397D (p.Ala397Asp) variant details
- p.Ala397Asp
- rs1555067667
- ClinGen CA381934657
- ClinVar RCV000812299
- ClinVar RCV001075552
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Usher syndrome type 1; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Usher syndrome type 1; Usher syndrome type 1B)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II… (PMID 12112664)
- Cited in: Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from… (PMID 9382091)