E6D (p.Glu6Asp) variant of UBQLN2 (Ubiquilin-2)
E6D (p.Glu6Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD X-56563891-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.00
- CADD 21.50
- PolyPhen-2 0.20
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available