R12L (p.Arg12Leu) variant of UBQLN2 (Ubiquilin-2)
R12L (p.Arg12Leu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- TOPMed rs1301101998
- gnomAD rs1301101998
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.03
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.73
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available