L168P (p.Leu168Pro) variant of MEN1 (Menin)
L168P (p.Leu168Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L168P (p.Leu168Pro) variant details
- p.Leu168Pro
- rs386134256
- ClinGen CA009447
- ClinVar RCV000030205
- UniProt VAR 039598
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: MEN1 gene mutations in 12 MEN1 families and their associated tumors. (PMID 9820618)
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)