A47V (p.Ala47Val) variant of UBQLN2 (Ubiquilin-2)
A47V (p.Ala47Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD X-56564013-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.69
- CADD 20.50
- PolyPhen-2 0.23
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available