G16S (p.Gly16Ser) variant of UBQLN2 (Ubiquilin-2)
G16S (p.Gly16Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- TOPMed rs1370164891
- gnomAD rs1370164891
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available