Q55H (p.Gln55His) variant of UBQLN2 (Ubiquilin-2)
Q55H (p.Gln55His) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q55H (p.Gln55His) variant details
- p.Gln55His
- gnomAD X-56564038-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.26
- MetaLR 0.36
- MetaSVM -0.35
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available