L10Q (p.Leu10Gln) variant of MEN1 (Menin)
L10Q (p.Leu10Gln) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L10Q (p.Leu10Gln) variant details
- p.Leu10Gln
- rs1942026011
- ClinGen CA381188253
- ClinVar RCV004016001
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- AlphaMissense 0.22
- MetaLR 0.96
- MetaSVM 1.18
- CADD 25.10
- PolyPhen-2 0.81
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)