V40A (p.Val40Ala) variant of MEN1 (Menin)
V40A (p.Val40Ala) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- ExAC rs747617261
- gnomAD rs747617261
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.88
- CADD 28.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available