N292S (p.Asn292Ser) variant of VPS35 (Q96QK1)
N292S (p.Asn292Ser) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N292S (p.Asn292Ser) variant details
- p.Asn292Ser
- ExAC rs751107774
- gnomAD rs751107774
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.12
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available