T36M (p.Thr36Met) variant of UBQLN2 (Ubiquilin-2)
T36M (p.Thr36Met) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T36M (p.Thr36Met) variant details
- p.Thr36Met
- gnomAD X-56563980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- MetaLR 0.31
- MetaSVM -0.42
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available