A11A (p.Ala11Ala) variant of VHL (P40337)
A11A (p.Ala11Ala) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs778674343
- gnomAD 3-10141880-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.51
- Population evidence available
- Structural context available
- Literature evidence available