C54F (p.Cys54Phe) variant of CRB1 (Protein crumbs homolog 1)
C54F (p.Cys54Phe) 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 12; Leber congenital amaurosis 8; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C54F (p.Cys54Phe) variant details
- p.Cys54Phe
- rs140428156
- ClinGen CA1311586
- ClinVar RCV000964696
- ClinVar RCV001100639
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.72
- MetaLR 0.99
- MetaSVM 1.03
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.011)
- 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)