K63R (p.Lys63Arg) variant of UBQLN2 (Ubiquilin-2)
K63R (p.Lys63Arg) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K63R (p.Lys63Arg) variant details
- p.Lys63Arg
- TOPMed rs1341538948
- gnomAD rs1341538948
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.13
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available