S4R (p.Ser4Arg) variant of HSD3B2 (P26439)
S4R (p.Ser4Arg) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- TOPMed rs1271030484
- gnomAD rs1271030484
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.50
- MetaLR 0.30
- MetaSVM -0.51
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available