Q71* (p.Gln71Ter) variant of SRD5A2 (P31213)
Q71* (p.Gln71Ter) 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.
Q71* (p.Gln71Ter) variant details
- p.Gln71Ter
- rs1060499834
- ClinGen CA16609845
- ClinVar RCV000469192
- TOPMed rs1060499834
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available