M1T (p.Met1Thr) variant of SRD5A2 (P31213)
M1T (p.Met1Thr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs886039748
- ClinGen CA10588340
- ClinVar RCV000254818
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available