C1312W (p.Cys1312Trp) variant of CRB1 (Protein crumbs homolog 1)
C1312W (p.Cys1312Trp) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal atrophy; Leber con. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C1312W (p.Cys1312Trp) variant details
- p.Cys1312Trp
- rs1665481687
- ClinGen CA344052568
- ClinVar RCV001217937
- ClinVar RCV002484183
- Conflicting interpretations
- Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal atrophy; Leber con
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.89
- CADD 23.80
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal at)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)