A28T (p.Ala28Thr) variant of UBQLN2 (Ubiquilin-2)
A28T (p.Ala28Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD X-56563955-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.03
- CADD 7.78
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available