C536S (p.Cys536Ser) variant of USH2A (Usherin)
C536S (p.Cys536Ser) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C536S (p.Cys536Ser) variant details
- p.Cys536Ser
- rs111033273
- ClinGen CA344907733
- ClinVar RCV001724840
- ClinVar RCV002543875
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.91
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in USH2A)
- UniProt: Pathogenic (in USH2A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)