P342T (p.Pro342Thr) variant of CYP17A1 (P05093)
P342T (p.Pro342Thr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P342T (p.Pro342Thr) variant details
- p.Pro342Thr
- rs104894137
- ClinGen CA115182
- ClinVar RCV000001856
- ClinVar RCV003555891
- Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.73
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 8.2e-06)
- Structural context available
- Cited in: Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous… (PMID 1740503)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)