R70W (p.Arg70Trp) variant of SRD5A2 (P31213)
R70W (p.Arg70Trp) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- ExAC rs771374873
- TOPMed rs771374873
- gnomAD rs771374873
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available