H142N (p.His142Asn) variant of VPS35 (Q96QK1)
H142N (p.His142Asn) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
H142N (p.His142Asn) variant details
- p.His142Asn
- TOPMed rs1966222581
- gnomAD rs1966222581
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.50
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available