V250I (p.Val250Ile) variant of VPS35 (Q96QK1)
V250I (p.Val250Ile) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V250I (p.Val250Ile) variant details
- p.Val250Ile
- ESP rs375809380
- ExAC rs375809380
- TOPMed rs375809380
- gnomAD rs375809380
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available