T95I (p.Thr95Ile) variant of SRD5A2 (P31213)
T95I (p.Thr95Ile) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.77 / 1. The record also includes population frequency data and structural context.
T95I (p.Thr95Ile) variant details
- p.Thr95Ile
- rs891598499
- ClinGen CA45136786
- ClinVar RCV003501148
- TOPMed rs891598499
- Uncertain significance
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available