K41R (p.Lys41Arg) variant of UBQLN2 (Ubiquilin-2)
K41R (p.Lys41Arg) 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, published literature, and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- gnomAD X-56563995-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.86
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available