E710V (p.Glu710Val) variant of CRB1 (Protein crumbs homolog 1)
E710V (p.Glu710Val) 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; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E710V (p.Glu710Val) variant details
- p.Glu710Val
- rs145282040
- ClinGen CA1312059
- ClinVar RCV000504865
- ClinVar RCV001053730
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.65
- MetaLR 0.65
- MetaSVM 0.22
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PMID 20591486)
- Cited in: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)