A18A (p.Ala18Ala) variant of VHL (P40337)
A18A (p.Ala18Ala) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs1305687580
- gnomAD 3-10141901-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.88
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available