S1006F (p.Ser1006Phe) variant of CRB1 (Protein crumbs homolog 1)
S1006F (p.Ser1006Phe) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S1006F (p.Ser1006Phe) variant details
- p.Ser1006Phe
- rs878853367
- ClinGen CA10581632
- cosmic curated COSV66334
- ClinVar RCV000225544
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.68
- AlphaMissense 0.29
- MetaLR 0.49
- MetaSVM -0.08
- CADD 24.00
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-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)