H75Q (p.His75Gln) variant of VPS35 (Q96QK1)
H75Q (p.His75Gln) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H75Q (p.His75Gln) variant details
- p.His75Gln
- 1000Genomes rs529522862
- ExAC rs529522862
- gnomAD rs529522862
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.15
- CADD 20.30
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available