R196* (p.Arg196Ter) variant of VPS35 (Q96QK1)
R196* (p.Arg196Ter) in VPS35 (Q96QK1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R196* (p.Arg196Ter) variant details
- p.Arg196Ter
- 1000Genomes rs201098565
- ExAC rs201098565
- gnomAD rs201098565
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 36.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available