P48T (p.Pro48Thr) variant of SRD5A2 (P31213)
P48T (p.Pro48Thr) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- TOPMed rs1260097640
- gnomAD rs1260097640
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 20.80
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available