S31C (p.Ser31Cys) variant of SRD5A2 (P31213)
S31C (p.Ser31Cys) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- ExAC rs782496734
- TOPMed rs782496734
- gnomAD rs782496734
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 18.40
- PolyPhen-2 0.75
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available