A28P (p.Ala28Pro) variant of UBQLN2 (Ubiquilin-2)
A28P (p.Ala28Pro) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- rs1459753673
- ClinGen CA413377522
- ClinVar RCV001919418
- ClinVar RCV004753430
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)