E6V (p.Glu6Val) variant of VHL (P40337)
E6V (p.Glu6Val) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E6V (p.Glu6Val) variant details
- p.Glu6Val
- Ensembl rs1696114029
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.80
- CADD 19.50
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available