S27L (p.Ser27Leu) variant of VPS35 (Q96QK1)
S27L (p.Ser27Leu) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- TOPMed rs1338443223
- gnomAD rs1338443223
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.39
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available