V54I (p.Val54Ile) variant of UBQLN2 (Ubiquilin-2)
V54I (p.Val54Ile) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- gnomAD X-56564033-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -1.00
- CADD 17.10
- PolyPhen-2 0.20
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available