H36Q (p.His36Gln) variant of SRD5A2 (P31213)
H36Q (p.His36Gln) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD rs1487065913
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available