D47G (p.Asp47Gly) variant of CRB1 (Protein crumbs homolog 1)
D47G (p.Asp47Gly) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- rs1240979285
- ClinGen CA344085111
- cosmic curated COSV66349
- ClinVar RCV001889074
- Uncertain significance
- Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.18
- MetaLR 0.61
- MetaSVM -0.37
- CADD 3.29
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Leber congenital amaurosis 8; Retinitis pigmentosa 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)