C1165R (p.Cys1165Arg) variant of CRB1 (Protein crumbs homolog 1)
C1165R (p.Cys1165Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber congenital amaurosi. 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.
C1165R (p.Cys1165Arg) variant details
- p.Cys1165Arg
- rs767368951
- ClinGen CA1312346
- ClinVar RCV001378741
- ClinVar RCV005235577
- Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.95
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber con)
- EBI: Likely pathogenic (in RP12)
- UniProt: Likely pathogenic (in RP12)
- Most common in the East Asian population (allele frequency 2.5e-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)