R70Q (p.Arg70Gln) variant of SRD5A2 (P31213)
R70Q (p.Arg70Gln) in SRD5A2 (P31213) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- rs61750387
- ClinGen CA224893
- ClinVar RCV000083646
- TOPMed rs61750387
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- CADD 2.87
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available