R305S (p.Arg305Ser) variant of VPS35 (Q96QK1)
R305S (p.Arg305Ser) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R305S (p.Arg305Ser) variant details
- p.Arg305Ser
- gnomAD rs77133510
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.74
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available