F48I (p.Phe48Ile) variant of CRB1 (Protein crumbs homolog 1)
F48I (p.Phe48Ile) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F48I (p.Phe48Ile) variant details
- p.Phe48Ile
- rs765448599
- ClinGen CA1311584
- ClinVar RCV001982268
- ExAC rs765448599
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.30
- MetaLR 0.47
- MetaSVM -0.38
- CADD 4.79
- PolyPhen-2 0.11
- SIFT 0.39
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)