A2S (p.Ala2Ser) variant of UBQLN2 (Ubiquilin-2)
A2S (p.Ala2Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs779715794
- ClinGen CA10430029
- ClinVar RCV003118500
- ExAC rs779715794
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.53
- SIFT 0.11
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)