S54* (p.Ser54Ter) variant of CSRP3 (P50461)
S54* (p.Ser54Ter) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S54* (p.Ser54Ter) variant details
- p.Ser54Ter
- gnomAD 11-19188252-CTCCG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available