P17S (p.Pro17Ser) variant of UBQLN2 (Ubiquilin-2)
P17S (p.Pro17Ser) 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 0.29 / 1. The record also includes published literature and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1378794338
- ClinGen CA413377458
- ClinVar RCV003088473
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.05
- MetaLR 0.05
- MetaSVM -1.07
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.27
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)