C74W (p.Cys74Trp) variant of CRB1 (Protein crumbs homolog 1)
C74W (p.Cys74Trp) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C74W (p.Cys74Trp) variant details
- p.Cys74Trp
- rs772819260
- ClinGen CA1311596
- ClinVar RCV001724858
- ClinVar RCV002227537
- Uncertain significance
- Retinitis pigmentosa; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.84
- MetaLR 1.00
- MetaSVM 0.80
- CADD 16.90
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa; Retinitis pigmentosa 12)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)