A5A (p.Ala5Ala) variant of VHL (P40337)
A5A (p.Ala5Ala) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs1355874307
- gnomAD 3-10141862-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available