R33K (p.Arg33Lys) variant of CRB1 (Protein crumbs homolog 1)
R33K (p.Arg33Lys) 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; Pigmented paravenous retinochoroidal atrophy; Leber congen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- rs1658648856
- ClinGen CA344085015
- ClinVar RCV001100636
- ClinVar RCV001100637
- Uncertain significance
- Retinitis pigmentosa; Pigmented paravenous retinochoroidal atrophy; Leber congen
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- MetaLR 0.53
- MetaSVM -0.43
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Retinitis pigmentosa; Pigmented paravenous retinochoroidal atrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)