A20D (p.Ala20Asp) variant of UBQLN2 (Ubiquilin-2)
A20D (p.Ala20Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD X-56563932-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available