G1288D (p.Gly1288Asp) variant of CRB1 (Protein crumbs homolog 1)
G1288D (p.Gly1288Asp) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G1288D (p.Gly1288Asp) variant details
- p.Gly1288Asp
- rs533997742
- ClinGen CA1312417
- ClinVar RCV001971616
- ClinVar RCV006458837
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.78
- MetaLR 0.89
- MetaSVM 0.94
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; not speci)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)