R64L (p.Arg64Leu) variant of UBQLN2 (Ubiquilin-2)
R64L (p.Arg64Leu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R64L (p.Arg64Leu) variant details
- p.Arg64Leu
- gnomAD X-56564064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.67
- MetaLR 0.47
- MetaSVM -0.19
- CADD 29.40
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available