R33G (p.Arg33Gly) variant of CRB1 (Protein crumbs homolog 1)
R33G (p.Arg33Gly) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- rs1452416023
- ClinGen CA344085013
- ClinVar RCV001235620
- ClinVar RCV001828875
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.32
- MetaLR 0.59
- MetaSVM -0.04
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.15
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)