G146C (p.Gly146Cys) variant of VPS35 (Q96QK1)
G146C (p.Gly146Cys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G146C (p.Gly146Cys) variant details
- p.Gly146Cys
- gnomAD rs1438790266
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available