C939G (p.Cys939Gly) variant of CRB1 (Protein crumbs homolog 1)
C939G (p.Cys939Gly) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis 8; Retinitis pigmentosa 12. 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.
C939G (p.Cys939Gly) variant details
- p.Cys939Gly
- rs1664775504
- ClinGen CA344041303
- ClinVar RCV003780959
- ClinVar RCV004573304
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.85
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.93
- CADD 23.50
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)