Q7H (p.Gln7His) variant of MEN1 (Menin)
Q7H (p.Gln7His) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- TOPMed rs1422628649
- gnomAD rs1422628649
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.66
- CADD 24.50
- PolyPhen-2 0.63
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available