A26S (p.Ala26Ser) variant of UBQLN2 (Ubiquilin-2)
A26S (p.Ala26Ser) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Amyotrophic lateral sclerosis type 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs2519961524
- ClinGen CA413377512
- ClinVar RCV003525603
- ClinVar RCV005220743
- Uncertain significance
- not provided; Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.02
- CADD 1.13
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; Amyotrophic lateral sclerosis type 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)