R89K (p.Arg89Lys) variant of VPS35 (Q96QK1)
R89K (p.Arg89Lys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R89K (p.Arg89Lys) variant details
- p.Arg89Lys
- ExAC rs750463506
- gnomAD rs750463506
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available