G899V (p.Gly899Val) variant of CRB1 (Protein crumbs homolog 1)
G899V (p.Gly899Val) 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; Retinoschisis of fovea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G899V (p.Gly899Val) variant details
- p.Gly899Val
- rs1254393801
- ClinGen CA344040429
- cosmic curated COSV66329
- ClinVar RCV001349499
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinoschisis of fovea
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.86
- MetaLR 0.94
- MetaSVM 1.09
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinosch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)