G9R (p.Gly9Arg) variant of UBQLN2 (Ubiquilin-2)
G9R (p.Gly9Arg) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- gnomAD X-56563898-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.07
- CADD 24.30
- PolyPhen-2 0.44
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.5e-05)
- Structural context available
- Literature evidence available