E38A (p.Glu38Ala) variant of SRD5A2 (P31213)
E38A (p.Glu38Ala) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E38A (p.Glu38Ala) variant details
- p.Glu38Ala
- ExAC rs761623469
- gnomAD rs761623469
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 9.95
- PolyPhen-2 0.03
- SIFT 0.51
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available