I32S (p.Ile32Ser) variant of UBQLN2 (Ubiquilin-2)
I32S (p.Ile32Ser) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I32S (p.Ile32Ser) variant details
- p.Ile32Ser
- gnomAD X-56563963-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available