C896F (p.Cys896Phe) variant of CRB1 (Protein crumbs homolog 1)
C896F (p.Cys896Phe) 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 not specified; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C896F (p.Cys896Phe) variant details
- p.Cys896Phe
- rs1571544334
- ClinGen CA344040378
- ClinVar RCV003808255
- ClinVar RCV004801403
- Conflicting interpretations
- not specified; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- 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 (not specified; Leber congenital amaurosis 8; Retinitis pigmentos)
- EBI: Likely pathogenic
- UniProt: Likely 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)