P13T (p.Pro13Thr) variant of UBQLN2 (Ubiquilin-2)
P13T (p.Pro13Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD X-56563910-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available