A62S (p.Ala62Ser) variant of SRD5A2 (P31213)
A62S (p.Ala62Ser) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A62S (p.Ala62Ser) variant details
- p.Ala62Ser
- TOPMed rs1340733222
- gnomAD rs1340733222
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 17.50
- PolyPhen-2 0.47
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00015)