F57L (p.Phe57Leu) variant of UBQLN2 (Ubiquilin-2)
F57L (p.Phe57Leu) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- Ensembl rs2068629124
- NCI-TCGA TCGA novel
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.57
- SIFT 0.68
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available