A2D (p.Ala2Asp) variant of UBQLN2 (Ubiquilin-2)
A2D (p.Ala2Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD X-56563878-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.56
- CADD 25.60
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available