G6* (p.Gly6Ter) variant of CSRP3 (P50461)
G6* (p.Gly6Ter) in CSRP3 (P50461) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G6* (p.Gly6Ter) variant details
- p.Gly6Ter
- 1000Genomes rs185980145
- ESP rs185980145
- ExAC rs185980145
- TOPMed rs185980145
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 37.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available