C40C (p.Cys40Cys) variant of CSRP3 (P50461)
C40C (p.Cys40Cys) in CSRP3 (P50461) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C40C (p.Cys40Cys) variant details
- p.Cys40Cys
- rs112884796
- gnomAD 11-19188297-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 10.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available