Q6* (p.Gln6Ter) variant of SRD5A2 (P31213)
Q6* (p.Gln6Ter) 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 0.67 / 1. The record also includes population frequency data and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs9332960
- ClinGen CA1600043
- ClinVar RCV000500379
- ClinVar RCV000578706
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available