Y18Q (p.Tyr18Gln) variant of CSRP3 (P50461)
Y18Q (p.Tyr18Gln) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y18Q (p.Tyr18Gln) variant details
- p.Tyr18Gln
- rs1336937886
- gnomAD 11-19192398-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available