M741T (p.Met741Thr) variant of CRB1 (Protein crumbs homolog 1)
M741T (p.Met741Thr) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M741T (p.Met741Thr) variant details
- p.Met741Thr
- rs62636267
- ClinGen CA228002
- cosmic curated COSV66328
- ClinVar RCV000086314
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.67
- MetaLR 0.61
- MetaSVM 0.12
- CADD 23.10
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal d)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)