M180V (p.Met180Val) variant of VPS35 (Q96QK1)
M180V (p.Met180Val) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M180V (p.Met180Val) variant details
- p.Met180Val
- TOPMed rs1966194020
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available