N51K (p.Asn51Lys) variant of MEN1 (Menin)
N51K (p.Asn51Lys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N51K (p.Asn51Lys) variant details
- p.Asn51Lys
- rs1555166669
- ClinGen CA381187776
- ClinVar RCV002837678
- Ensembl rs1555166669
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.48
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.19
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)