A19V (p.Ala19Val) variant of UBQLN2 (Ubiquilin-2)
A19V (p.Ala19Val) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs2146635566
- ClinGen CA413377473
- ClinVar RCV001944256
- Ensembl rs2146635566
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- CADD 20.90
- PolyPhen-2 0.42
- SIFT 0.18
- 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 4.9e-06)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)