Q49* (p.Gln49Ter) variant of SLC34A3 (Q8N130)
Q49* (p.Gln49Ter) in SLC34A3 (Q8N130) 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 0.56 / 1. The record also includes population frequency data and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- rs2131403056
- ClinGen CA375725817
- NCI-TCGA Cosmic COSV6318
- cosmic curated COSV63187
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available