P836T (p.Pro836Thr) variant of CRB1 (Protein crumbs homolog 1)
P836T (p.Pro836Thr) 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 CRB1-related disorder; Retinitis pigmentosa 12; Pigmented paravenous retinochoro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P836T (p.Pro836Thr) variant details
- p.Pro836Thr
- rs116471343
- ClinGen CA1312130
- ClinVar RCV000414087
- ClinVar RCV000986491
- Pathogenic/Likely pathogenic
- CRB1-related disorder; Retinitis pigmentosa 12; Pigmented paravenous retinochoro
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.69
- MetaLR 0.60
- MetaSVM 0.14
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (CRB1-related disorder; Retinitis pigmentosa 12; Pigmented parave)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: CRB1 mutation spectrum in inherited retinal dystrophies. (PMID 15459956)
- Cited in: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)