A19G (p.Ala19Gly) variant of VPS35 (Q96QK1)
A19G (p.Ala19Gly) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- ESP rs370411054
- ExAC rs370411054
- TOPMed rs370411054
- gnomAD rs370411054
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.30
- CADD 27.50
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available