A20T (p.Ala20Thr) variant of UBQLN2 (Ubiquilin-2)
A20T (p.Ala20Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD X-56563931-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available