S14Y (p.Ser14Tyr) variant of UBQLN2 (Ubiquilin-2)
S14Y (p.Ser14Tyr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S14Y (p.Ser14Tyr) variant details
- p.Ser14Tyr
- gnomAD X-56563914-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.77
- CADD 24.10
- PolyPhen-2 0.83
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available