P11Q (p.Pro11Gln) variant of UBQLN2 (Ubiquilin-2)
P11Q (p.Pro11Gln) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- ExAC rs778646844
- TOPMed rs778646844
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.07
- CADD 24.70
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available