S31F (p.Ser31Phe) variant of SRD5A2 (P31213)
S31F (p.Ser31Phe) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- rs782496734
- ClinGen CA346599123
- ClinVar RCV003608282
- ExAC rs782496734
- Benign
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 8.91
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Benign (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available