P11T (p.Pro11Thr) variant of UBQLN2 (Ubiquilin-2)
P11T (p.Pro11Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD X-56563904-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -0.97
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available