Q21K (p.Gln21Lys) variant of UBQLN2 (Ubiquilin-2)
Q21K (p.Gln21Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD X-56563934-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.05
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available