Y76H (p.Tyr76His) variant of VPS35 (Q96QK1)
Y76H (p.Tyr76His) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Y76H (p.Tyr76His) variant details
- p.Tyr76His
- TOPMed rs888688416
- gnomAD rs888688416
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available