P10T (p.Pro10Thr) variant of UBQLN2 (Ubiquilin-2)
P10T (p.Pro10Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD X-56563901-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.91
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available