C67S (p.Cys67Ser) variant of CRB1 (Protein crumbs homolog 1)
C67S (p.Cys67Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C67S (p.Cys67Ser) variant details
- p.Cys67Ser
- rs749112809
- ClinGen CA1311592
- ClinVar RCV001248575
- ClinVar RCV001830044
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.09
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-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)