C1218G (p.Cys1218Gly) variant of CRB1 (Protein crumbs homolog 1)
C1218G (p.Cys1218Gly) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
C1218G (p.Cys1218Gly) variant details
- p.Cys1218Gly
- rs968499207
- ClinGen CA344050239
- ClinVar RCV003890370
- ClinVar RCV005616842
- Conflicting interpretations
- Leber congenital amaurosis; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis; Retinal dystrophy)
- EBI: Likely pathogenic (in LCA8)
- UniProt: Likely pathogenic (in LCA8)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available