T318P (p.Thr318Pro) variant of CYP11B1 (P15538)
T318P (p.Thr318Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
T318P (p.Thr318Pro) variant details
- p.Thr318Pro
- rs1296969984
- UniProt VAR 074516
- gnomAD rs1296969984
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.63
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)