G9D (p.Gly9Asp) variant of UBQLN2 (Ubiquilin-2)
G9D (p.Gly9Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- gnomAD X-56563899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available