P11R (p.Pro11Arg) variant of UBQLN2 (Ubiquilin-2)
P11R (p.Pro11Arg) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- gnomAD X-56563899-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available