Q7* (p.Gln7Ter) variant of SRD5A2 (P31213)
Q7* (p.Gln7Ter) in SRD5A2 (P31213) 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 0.45 / 1. The record also includes population frequency data and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs566562286
- ClinGen CA346599272
- ClinVar RCV003608508
- 1000Genomes rs566562286
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available