W4* (p.Trp4Ter) variant of CSRP3 (P50461)
W4* (p.Trp4Ter) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- gnomAD 11-19185009-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.83
- MetaLR 0.74
- MetaSVM 0.58
- CADD 25.10
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available