F46L (p.Phe46Leu) variant of UBQLN2 (Ubiquilin-2)
F46L (p.Phe46Leu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- gnomAD X-56564011-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.37
- MetaLR 0.30
- MetaSVM -0.65
- CADD 23.30
- PolyPhen-2 0.65
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available