E22* (p.Glu22Ter) variant of CSRP3 (P50461)
E22* (p.Glu22Ter) in CSRP3 (P50461) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- rs1354475812
- ClinGen CA379888575
- ClinVar RCV002356276
- NCI-TCGA Cosmic COSV5638
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.98
- MetaLR 0.67
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available