D128N (p.Asp128Asn) variant of VPS35 (Q96QK1)
D128N (p.Asp128Asn) 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.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- ESP rs375986040
- ExAC rs375986040
- TOPMed rs375986040
- gnomAD rs375986040
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.62
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available