A28T (p.Ala28Thr) variant of SRD5A2 (P31213)
A28T (p.Ala28Thr) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- ESP rs375737257
- ExAC rs375737257
- TOPMed rs375737257
- gnomAD rs375737257
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- CADD 3.83
- PolyPhen-2 0.02
- SIFT 0.64
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available