S29* (p.Ser29Ter) variant of SLC22A1 (O15245)
S29* (p.Ser29Ter) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S29* (p.Ser29Ter) variant details
- p.Ser29Ter
- cosmic curated COSV10462
- ExAC rs375175439
- TOPMed rs375175439
- gnomAD rs375175439
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 34.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available