M49I (p.Met49Ile) variant of VPS35 (Q96QK1)
M49I (p.Met49Ile) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M49I (p.Met49Ile) variant details
- p.Met49Ile
- TOPMed rs1966245031
- gnomAD rs1966245031
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.32
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available