H133N (p.His133Asn) variant of MYO7A (Unconventional myosin-VIIa)
H133N (p.His133Asn) 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 Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H133N (p.His133Asn) variant details
- p.His133Asn
- rs111033403
- ClinGen CA177366
- ClinVar RCV000151476
- ClinVar RCV000665283
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)