Q22* (p.Gln22Ter) variant of SLC12A1 (Q13621)
Q22* (p.Gln22Ter) in SLC12A1 (Q13621) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs2140999192
- ClinGen CA392331091
- ClinVar RCV003716206
- Ensembl rs2140999192
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available