T208I (p.Thr208Ile) variant of SRD5A2 (P31213)
T208I (p.Thr208Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T208I (p.Thr208Ile) variant details
- p.Thr208Ile
- rs759318152
- ClinGen CA1599875
- ClinVar RCV000548299
- ExAC rs759318152
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 24.40
- PolyPhen-2 0.89
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available