E3K (p.Glu3Lys) variant of UBQLN2 (Ubiquilin-2)
E3K (p.Glu3Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD X-56563880-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.67
- CADD 24.40
- PolyPhen-2 0.52
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available