A6V (p.Ala6Val) variant of MEN1 (Menin)
A6V (p.Ala6Val) 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 0.65 / 1. The record also includes published literature and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs2136196726
- ClinGen CA381188303
- ClinVar RCV002627781
- Ensembl rs2136196726
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.14
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 0.93
- SIFT 0.17
- EVE 0.27
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)