R12C (p.Arg12Cys) variant of UBQLN2 (Ubiquilin-2)
R12C (p.Arg12Cys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- gnomAD X-56563907-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.25
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available