Q71K (p.Gln71Lys) variant of UBQLN2 (Ubiquilin-2)
Q71K (p.Gln71Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q71K (p.Gln71Lys) variant details
- p.Gln71Lys
- gnomAD X-56564084-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.62
- MetaLR 0.59
- MetaSVM 0.27
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available