A5S (p.Ala5Ser) variant of MEN1 (Menin)
A5S (p.Ala5Ser) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs1942028148
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.44
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.66
- Population evidence available
- Structural context available