A2V (p.Ala2Val) variant of UBQLN2 (Ubiquilin-2)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD X-56563878-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.72
- CADD 23.80
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available