G834D (p.Gly834Asp) variant of CRB1 (Protein crumbs homolog 1)
G834D (p.Gly834Asp) 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 not provided; Leber congenital amaurosis; Autosomal recessive CRB1-related disor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G834D (p.Gly834Asp) variant details
- p.Gly834Asp
- rs1085307972
- ClinGen CA344037829
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV000488946
- Pathogenic/Likely pathogenic
- not provided; Leber congenital amaurosis; Autosomal recessive CRB1-related disor
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.04
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Leber congenital amaurosis; Autosomal recessive CR)
- EBI: Pathogenic
- UniProt: 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)