G685A (p.Gly685Ala) variant of CRB1 (Protein crumbs homolog 1)
G685A (p.Gly685Ala) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G685A (p.Gly685Ala) variant details
- p.Gly685Ala
- rs748175297
- ClinGen CA1312029
- ClinVar RCV002633018
- ClinVar RCV006262647
- Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.78
- MetaLR 0.92
- MetaSVM 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)