Q56H (p.Gln56His) variant of SRD5A2 (P31213)
Q56H (p.Gln56His) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q56H (p.Gln56His) variant details
- p.Gln56His
- gnomAD rs1311014616
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 21.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available