Q7E (p.Gln7Glu) variant of SRD5A2 (P31213)
Q7E (p.Gln7Glu) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- 1000Genomes rs566562286
- ExAC rs566562286
- TOPMed rs566562286
- gnomAD rs566562286
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 8.14
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available