F270C (p.Phe270Cys) variant of VPS35 (Q96QK1)
F270C (p.Phe270Cys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F270C (p.Phe270Cys) variant details
- p.Phe270Cys
- ExAC rs761821222
- gnomAD rs761821222
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.87
- CADD 30.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available