L14F (p.Leu14Phe) variant of CRB1 (Protein crumbs homolog 1)
L14F (p.Leu14Phe) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs551204372
- ClinGen CA1311552
- ClinVar RCV003072027
- 1000Genomes rs551204372
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.42
- MetaLR 0.55
- MetaSVM -0.09
- CADD 23.00
- PolyPhen-2 0.29
- SIFT 0.25
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.025)
- 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)