V17M (p.Val17Met) variant of CSRP3 (P50461)
V17M (p.Val17Met) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- rs776444956
- gnomAD 11-19192393-TGGTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available