H202Y (p.His202Tyr) variant of VPS35 (Q96QK1)
H202Y (p.His202Tyr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H202Y (p.His202Tyr) variant details
- p.His202Tyr
- gnomAD rs79423190
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.40
- CADD 27.10
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available