R24* (p.Arg24Ter) variant of ORC1 (Q13415)
R24* (p.Arg24Ter) in ORC1 (Q13415) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R24* (p.Arg24Ter) variant details
- p.Arg24Ter
- rs1263248699
- NCI-TCGA Cosmic COSV9993
- cosmic curated COSV99933
- TOPMed rs1263248699
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.79
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.47
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available