R12A (p.Arg12Ala) variant of UBQLN2 (Ubiquilin-2)
R12A (p.Arg12Ala) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R12A (p.Arg12Ala) variant details
- p.Arg12Ala
- rs1385308098
- gnomAD X-56563899-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available