K38M (p.Lys38Met) variant of UBQLN2 (Ubiquilin-2)
K38M (p.Lys38Met) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K38M (p.Lys38Met) variant details
- p.Lys38Met
- gnomAD X-56563986-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.83
- MetaLR 0.72
- MetaSVM 0.60
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available