R14H (p.Arg14His) variant of MEN1 (Menin)
R14H (p.Arg14His) 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 0.76 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- Ensembl rs2136195966
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.75
- AlphaMissense 0.38
- MetaLR 0.96
- MetaSVM 1.03
- CADD 29.60
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available