p.Ala18 Glu37del variant of VHL (P40337)
p.Ala18 Glu37del in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala18 Glu37del variant details
- gnomAD 3-10141886-AGGCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available