T745K (p.Thr745Lys) variant of CRB1 (Protein crumbs homolog 1)
T745K (p.Thr745Lys) 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; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T745K (p.Thr745Lys) variant details
- p.Thr745Lys
- rs28939720
- ClinGen CA35900398
- ClinVar RCV001250643
- ClinVar RCV001879784
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.81
- MetaLR 0.84
- MetaSVM 0.80
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber con)
- EBI: Pathogenic (in RP12 and LCA8)
- UniProt: Pathogenic (in RP12 and LCA8)
- Most common in the African/African-American population (allele frequency 2.4e-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)