H45Y (p.His45Tyr) variant of VPS35 (Q96QK1)
H45Y (p.His45Tyr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- TOPMed rs1448750143
- gnomAD rs1448750143
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available