S611P (p.Ser611Pro) variant of CRB1 (Protein crumbs homolog 1)
S611P (p.Ser611Pro) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S611P (p.Ser611Pro) variant details
- p.Ser611Pro
- rs769909288
- ClinGen CA1311991
- ClinVar RCV001390796
- ClinVar RCV001831405
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.68
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00038)
- 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)