I20M (p.Ile20Met) variant of VPS35 (Q96QK1)
I20M (p.Ile20Met) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I20M (p.Ile20Met) variant details
- p.Ile20Met
- ExAC rs781646463
- gnomAD rs781646463
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.15
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available