G5D (p.Gly5Asp) variant of UBQLN2 (Ubiquilin-2)
G5D (p.Gly5Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD X-56563887-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.52
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available