T120P (p.Thr120Pro) variant of SRD5A2 (P31213)
T120P (p.Thr120Pro) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differences in sex devel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T120P (p.Thr120Pro) variant details
- p.Thr120Pro
- rs764433016
- ClinGen CA1599955
- ClinVar RCV000706218
- ClinVar RCV005865384
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differences in sex devel
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- CADD 0.56
- PolyPhen-2 0.31
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available