A65S (p.Ala65Ser) variant of SRD5A2 (P31213)
A65S (p.Ala65Ser) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions.
A65S (p.Ala65Ser) variant details
- p.Ala65Ser
- TOPMed rs1186430097
- gnomAD rs1186430097
- Pathogenic
- Missense
- SIFT 0.20
- EBI: Pathogenic
- UniProt: Pathogenic