T9A (p.Thr9Ala) variant of MEN1 (Menin)
T9A (p.Thr9Ala) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- TOPMed rs1489754478
- gnomAD rs1489754478
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.46
- AlphaMissense 0.05
- MetaLR 0.82
- MetaSVM 0.51
- CADD 22.30
- PolyPhen-2 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available