S7R (p.Ser7Arg) variant of UBQLN2 (Ubiquilin-2)
S7R (p.Ser7Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs202132872
- ClinGen CA10430030
- ClinVar RCV002020808
- 1000Genomes rs202132872
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)