S43P (p.Ser43Pro) variant of CRB1 (Protein crumbs homolog 1)
S43P (p.Ser43Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- rs1254919944
- ClinGen CA344085081
- ClinVar RCV001885011
- ClinVar RCV002503519
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.70
- MetaLR 0.86
- MetaSVM 0.89
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)