C156R (p.Cys156Arg) variant of VPS35 (Q96QK1)
C156R (p.Cys156Arg) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C156R (p.Cys156Arg) variant details
- p.Cys156Arg
- ExAC rs778970704
- gnomAD rs778970704
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.61
- CADD 24.50
- PolyPhen-2 0.66
- SIFT 0.23
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available