R1331C (p.Arg1331Cys) variant of CRB1 (Protein crumbs homolog 1)
R1331C (p.Arg1331Cys) 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; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1331C (p.Arg1331Cys) variant details
- p.Arg1331Cys
- rs760544654
- ClinGen CA1312457
- NCI-TCGA Cosmic COSV6633
- cosmic curated COSV66330
- Pathogenic/Likely pathogenic
- not provided; Leber congenital amaurosis; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.87
- CADD 29.90
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Leber congenital amaurosis; Retinitis pigmentosa 1)
- EBI: Pathogenic (in dbSNP:rs62636285)
- UniProt: Pathogenic (in dbSNP:rs62636285)
- 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)