F46I (p.Phe46Ile) variant of UBQLN2 (Ubiquilin-2)
F46I (p.Phe46Ile) 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 0.45 / 1. The record also includes population frequency data and structural context.
F46I (p.Phe46Ile) variant details
- p.Phe46Ile
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5773
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.39
- CADD 22.10
- PolyPhen-2 0.21
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available