N37T (p.Asn37Thr) variant of VPS35 (Q96QK1)
N37T (p.Asn37Thr) in VPS35 (Q96QK1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N37T (p.Asn37Thr) variant details
- p.Asn37Thr
- ExAC rs777006799
- TOPMed rs777006799
- gnomAD rs777006799
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available