Q141R (p.Gln141Arg) variant of MEN1 (Menin)
Q141R (p.Gln141Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q141R (p.Gln141Arg) variant details
- p.Gln141Arg
- rs758846538
- ClinGen CA061129
- cosmic curated COSV56343
- ClinVar RCV001323222
- Conflicting interpretations
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.20
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)