A15A (p.Ala15Ala) variant of VHL (P40337)
A15A (p.Ala15Ala) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- rs563813895
- gnomAD 3-10141892-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.11
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available