T1041M (p.Thr1041Met) variant of LRP5 (O75197)
T1041M (p.Thr1041Met) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T1041M (p.Thr1041Met) variant details
- p.Thr1041Met
- rs1311935185
- ClinGen CA381620762
- NCI-TCGA Cosmic COSV5371
- ClinVar RCV002004821
- Pathogenic/Likely pathogenic
- Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- MetaLR 0.91
- MetaSVM 1.05
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 w)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)