A60G (p.Ala60Gly) variant of UBQLN2 (Ubiquilin-2)
A60G (p.Ala60Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A60G (p.Ala60Gly) variant details
- p.Ala60Gly
- gnomAD X-56564052-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.27
- MetaLR 0.31
- MetaSVM -0.62
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available