S1006Y (p.Ser1006Tyr) variant of CRB1 (Protein crumbs homolog 1)
S1006Y (p.Ser1006Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis; Retinitis pigmentosa 12; Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
S1006Y (p.Ser1006Tyr) variant details
- p.Ser1006Tyr
- rs878853367
- ClinGen CA344044595
- ClinVar RCV003228863
- ClinVar RCV003475547
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis; Retinitis pigmentosa 12; Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.29
- MetaLR 0.49
- MetaSVM -0.08
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis; Retinitis pigmentosa 12; Leber conge)
- 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)