P31S (p.Pro31Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
P31S (p.Pro31Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1312672769
- ClinGen CA363498898
- NCI-TCGA Cosmic COSV6448
- cosmic curated COSV64484
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.47
- MetaLR 0.54
- MetaSVM 0.15
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.86
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic (in AH3)
- UniProt: Likely pathogenic (in AH3)
- Structural context available
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)