I134N (p.Ile134Asn) variant of MYO7A (Unconventional myosin-VIIa)
I134N (p.Ile134Asn) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I134N (p.Ile134Asn) variant details
- p.Ile134Asn
- rs111033181
- ClinGen CA278663
- ClinVar RCV000036134
- ClinVar RCV000673536
- Pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- CADD 28.40
- PolyPhen-2 0.94
- ClinVar: Pathogenic (Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)