P49H (p.Pro49His) variant of UBQLN2 (Ubiquilin-2)
P49H (p.Pro49His) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P49H (p.Pro49His) variant details
- p.Pro49His
- gnomAD X-56564019-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.24
- MetaLR 0.39
- MetaSVM -0.30
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available