A22S (p.Ala22Ser) variant of VPS35 (Q96QK1)
A22S (p.Ala22Ser) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- ExAC rs769187894
- TOPMed rs769187894
- gnomAD rs769187894
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available