P31Q (p.Pro31Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
P31Q (p.Pro31Gln) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P31Q (p.Pro31Gln) variant details
- p.Pro31Gln
- rs9378251
- 1000Genomes rs9378251
- gnomAD rs9378251
- ClinGen CA363498902
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.50
- MetaLR 0.53
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.94
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Population evidence available
- Structural context available
- Cited in: Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase… (PMID 10198222)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)