G16D (p.Gly16Asp) variant of UBQLN2 (Ubiquilin-2)
G16D (p.Gly16Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD X-56563920-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -0.88
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available