C163G (p.Cys163Gly) variant of CRB1 (Protein crumbs homolog 1)
C163G (p.Cys163Gly) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C163G (p.Cys163Gly) variant details
- p.Cys163Gly
- rs2125304485
- ClinGen CA344085881
- ClinVar RCV002006570
- Ensembl rs2125304485
- Uncertain significance
- Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.93
- MetaLR 1.00
- MetaSVM 1.56
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 8; Retinitis pigmentosa 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)