A51S (p.Ala51Ser) variant of SRD5A2 (P31213)
A51S (p.Ala51Ser) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- ExAC rs61748123
- TOPMed rs61748123
- gnomAD rs61748123
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 15.20
- PolyPhen-2 0.61
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available