C1321G (p.Cys1321Gly) variant of CRB1 (Protein crumbs homolog 1)
C1321G (p.Cys1321Gly) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C1321G (p.Cys1321Gly) variant details
- p.Cys1321Gly
- rs62635649
- ClinGen CA344052628
- ClinVar RCV000986497
- ClinVar RCV001809876
- Likely pathogenic
- Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal atrophy; Leber con
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal at)
- EBI: Likely pathogenic (in LCA8)
- UniProt: Likely pathogenic (in LCA8)
- Most common in the South Asian population (allele frequency 1.2e-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)