C37S (p.Cys37Ser) variant of CSRP3 (P50461)
C37S (p.Cys37Ser) in CSRP3 (P50461) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C37S (p.Cys37Ser) variant details
- p.Cys37Ser
- rs760600548
- gnomAD 11-19192338-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available