Q24* (p.Gln24Ter) variant of CSRP3 (P50461)
Q24* (p.Gln24Ter) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs1590102843
- gnomAD 11-19185037-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 8.10
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available