A11V (p.Ala11Val) variant of VHL (P40337)
A11V (p.Ala11Val) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- Ensembl rs2125124474
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.25
- MetaLR 0.41
- MetaSVM -0.53
- CADD 18.10
- PolyPhen-2 0.26
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available