R64H (p.Arg64His) variant of UBQLN2 (Ubiquilin-2)
R64H (p.Arg64His) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- gnomAD X-56564064-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.51
- MetaLR 0.36
- MetaSVM -0.46
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available