I32I (p.Ile32Ile) variant of UBQLN2 (Ubiquilin-2)
I32I (p.Ile32Ile) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I32I (p.Ile32Ile) variant details
- p.Ile32Ile
- gnomAD X-56563969-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 13.00
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available