Y18T (p.Tyr18Thr) variant of CSRP3 (P50461)
Y18T (p.Tyr18Thr) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y18T (p.Tyr18Thr) variant details
- p.Tyr18Thr
- rs759305806
- gnomAD 11-19192396-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available