I266V (p.Ile266Val) variant of VPS35 (Q96QK1)
I266V (p.Ile266Val) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I266V (p.Ile266Val) variant details
- p.Ile266Val
- ExAC rs773110975
- gnomAD rs773110975
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.22
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available