p.Pro11 Pro17del variant of UBQLN2 (Ubiquilin-2)
p.Pro11 Pro17del in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro11 Pro17del variant details
- rs766137036
- gnomAD X-56563895-AGCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 19.90
- Most common in the Latino/Admixed American population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available