K43R (p.Lys43Arg) variant of UBQLN2 (Ubiquilin-2)
K43R (p.Lys43Arg) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- gnomAD X-56564001-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.48
- MetaLR 0.56
- MetaSVM 0.10
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available