P10L (p.Pro10Leu) variant of UBQLN2 (Ubiquilin-2)
P10L (p.Pro10Leu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- gnomAD X-56563902-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.94
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available