A5G (p.Ala5Gly) variant of MEN1 (Menin)
A5G (p.Ala5Gly) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs2136196896
- ClinGen CA381188316
- ClinVar RCV002037474
- Ensembl rs2136196896
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-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)