Q114* (p.Gln114Ter) variant of SLC37A4 (O43826)
Q114* (p.Gln114Ter) in SLC37A4 (O43826) 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 0.86 / 1. The record also includes population frequency data and structural context.
Q114* (p.Gln114Ter) variant details
- p.Gln114Ter
- ExAC rs782313064
- gnomAD rs782313064
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available