A52S (p.Ala52Ser) variant of SRD5A2 (P31213)
A52S (p.Ala52Ser) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- 1000Genomes rs564403641
- ExAC rs564403641
- TOPMed rs564403641
- gnomAD rs564403641
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.04
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available