A18D (p.Ala18Asp) variant of UBQLN2 (Ubiquilin-2)
A18D (p.Ala18Asp) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available