R33S (p.Arg33Ser) variant of CRB1 (Protein crumbs homolog 1)
R33S (p.Arg33Ser) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- rs59691602
- ClinGen CA228954
- cosmic curated COSV99054
- ClinVar RCV000087005
- Conflicting interpretations
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.21
- MetaLR 0.57
- MetaSVM -0.24
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provi)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-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)