V250A (p.Val250Ala) variant of VPS35 (Q96QK1)
V250A (p.Val250Ala) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V250A (p.Val250Ala) variant details
- p.Val250Ala
- TOPMed rs1480205519
- gnomAD rs1480205519
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.49
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available