Q56K (p.Gln56Lys) variant of UBQLN2 (Ubiquilin-2)
Q56K (p.Gln56Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q56K (p.Gln56Lys) variant details
- p.Gln56Lys
- gnomAD X-56564039-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.27
- MetaLR 0.33
- MetaSVM -0.55
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available