D564Y (p.Asp564Tyr) variant of CRB1 (Protein crumbs homolog 1)
D564Y (p.Asp564Tyr) 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 Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber con. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D564Y (p.Asp564Tyr) variant details
- p.Asp564Tyr
- rs757279881
- ClinGen CA344032088
- ClinVar RCV004573485
- ClinVar RCV004579629
- Pathogenic/Likely pathogenic
- Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber con
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.80
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pigmented paravenous retinochoroidal atrophy; Retinitis pigmento)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Gene symbol: CRB1. Disease: early onset retinitis pigmentosa. (PMID 17128490)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)