G615D (p.Gly615Asp) variant of CRB1 (Protein crumbs homolog 1)
G615D (p.Gly615Asp) 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; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G615D (p.Gly615Asp) variant details
- p.Gly615Asp
- rs768905244
- ClinGen CA1311994
- cosmic curated COSV10652
- ClinVar RCV001724857
- Conflicting interpretations
- Retinitis pigmentosa; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.80
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa; Leber congenital amaurosis 8; Retinitis pi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)