V48M (p.Val48Met) variant of UBQLN2 (Ubiquilin-2)
V48M (p.Val48Met) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- gnomAD X-56564015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.72
- MetaLR 0.68
- MetaSVM 0.51
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available