C1218S (p.Cys1218Ser) variant of CRB1 (Protein crumbs homolog 1)
C1218S (p.Cys1218Ser) 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 Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber con. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C1218S (p.Cys1218Ser) variant details
- p.Cys1218Ser
- rs968499207
- ClinGen CA35907969
- ClinVar RCV004527131
- ClinVar RCV005006437
- Conflicting interpretations
- Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber con
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.96
- CADD 24.60
- ClinVar: Conflicting classifications of pathogenicity (Pigmented paravenous retinochoroidal atrophy; Retinitis pigmento)
- EBI: Likely pathogenic (in LCA8)
- UniProt: Likely pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)