A28E (p.Ala28Glu) variant of SRD5A2 (P31213)
A28E (p.Ala28Glu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- ExAC rs781872598
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 0.99
- PolyPhen-2 0.26
- SIFT 0.86
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available