G5R (p.Gly5Arg) variant of UBQLN2 (Ubiquilin-2)
G5R (p.Gly5Arg) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD X-56563886-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.54
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available