G750V (p.Gly750Val) variant of CRB1 (Protein crumbs homolog 1)
G750V (p.Gly750Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G750V (p.Gly750Val) variant details
- p.Gly750Val
- rs2125483925
- ClinGen CA344036811
- ClinVar RCV001940368
- ClinVar RCV003238878
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.71
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)