G850V (p.Gly850Val) variant of CRB1 (Protein crumbs homolog 1)
G850V (p.Gly850Val) 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; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G850V (p.Gly850Val) variant details
- p.Gly850Val
- rs757137398
- ClinGen CA1312140
- ClinVar RCV001908346
- ClinVar RCV004571537
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented)
- EBI: Pathogenic (in RP12 and LCA8)
- UniProt: Pathogenic (in RP12 and LCA8)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)