P11L (p.Pro11Leu) variant of UBQLN2 (Ubiquilin-2)
P11L (p.Pro11Leu) 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 and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- ExAC rs778646844
- TOPMed rs778646844
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00031)
- Structural context available