C1229S (p.Cys1229Ser) variant of CRB1 (Protein crumbs homolog 1)
C1229S (p.Cys1229Ser) 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 8; Retinitis pigmentosa 12; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C1229S (p.Cys1229Ser) variant details
- p.Cys1229Ser
- rs1031415706
- ClinGen CA35907997
- ClinVar RCV001350386
- ClinVar RCV003473873
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.98
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)