K42fsX variant of CSRP3 (P50461)
For K42fsX in CSRP3 (P50461), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K42fsX variant details
- rs886041190
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available