D1005V (p.Asp1005Val) variant of CRB1 (Protein crumbs homolog 1)
D1005V (p.Asp1005Val) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D1005V (p.Asp1005Val) variant details
- p.Asp1005Val
- rs369184026
- ClinGen CA1312260
- ClinVar RCV001049924
- ClinVar RCV001073588
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.74
- MetaLR 0.49
- MetaSVM 0.03
- CADD 25.90
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 9.9e-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)