Y90C (p.Tyr90Cys) variant of USH2A (Usherin)
Y90C (p.Tyr90Cys) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 39; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y90C (p.Tyr90Cys) variant details
- p.Tyr90Cys
- rs755435330
- ClinGen CA1396823
- ClinVar RCV001953352
- ClinVar RCV003475194
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 39; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.65
- CADD 22.80
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 39; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)