P40H (p.Pro40His) variant of UBQLN2 (Ubiquilin-2)
P40H (p.Pro40His) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- gnomAD X-56563992-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.62
- MetaLR 0.67
- MetaSVM 0.45
- CADD 24.80
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available