L44* (p.Leu44Ter) variant of CSRP3 (P50461)
L44* (p.Leu44Ter) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L44* (p.Leu44Ter) variant details
- p.Leu44Ter
- gnomAD 11-19186324-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 5.99
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available