A242V (p.Ala242Val) variant of MEN1 (Menin)
A242V (p.Ala242Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A242V (p.Ala242Val) variant details
- p.Ala242Val
- rs2136141530
- ClinGen CA381184441
- ClinVar RCV001378938
- Ensembl rs2136141530
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. (PMID 14992727)
- Cited in: The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. (PMID 22327296)