M88I (p.Met88Ile) variant of CYP11B1 (P15538)
M88I (p.Met88Ile) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M88I (p.Met88Ile) variant details
- p.Met88Ile
- rs193922539
- ClinGen CA213665
- NCI-TCGA Cosmic COSV5282
- ClinVar RCV000029645
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.36
- CADD 1.37
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the REMAINING population (allele frequency 9.9e-05)
- 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)