L10P (p.Leu10Pro) variant of CRB1 (Protein crumbs homolog 1)
L10P (p.Leu10Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- rs201609001
- ClinGen CA1311549
- ClinVar RCV000658537
- ClinVar RCV001477776
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.72
- MetaLR 0.75
- MetaSVM 0.56
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; not provi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)