C1285G (p.Cys1285Gly) variant of CRB1 (Protein crumbs homolog 1)
C1285G (p.Cys1285Gly) 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 not provided; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C1285G (p.Cys1285Gly) variant details
- p.Cys1285Gly
- rs1665279918
- ClinGen CA344050984
- ClinVar RCV002862574
- ClinVar RCV003146645
- Conflicting interpretations
- not provided; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa 12; Leber congenital amaurosi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)