G42V (p.Gly42Val) variant of MEN1 (Menin)
G42V (p.Gly42Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- rs1565652689
- ClinGen CA381187882
- ClinVar RCV000756338
- Ensembl rs1565652689
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.90
- PolyPhen-2 0.80
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Population evidence available
- Structural context available