C896Y (p.Cys896Tyr) variant of CRB1 (Protein crumbs homolog 1)
C896Y (p.Cys896Tyr) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C896Y (p.Cys896Tyr) variant details
- p.Cys896Tyr
- rs1571544334
- ClinGen CA344040380
- ClinVar RCV000994218
- ClinVar RCV001199673
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 1.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; not speci)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)