R4A (p.Arg4Ala) variant of VHL (P40337)
R4A (p.Arg4Ala) in VHL (P40337) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R4A (p.Arg4Ala) variant details
- p.Arg4Ala
- rs1559425474
- gnomAD 3-10141853-C-CCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 18.80
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available