A60V (p.Ala60Val) variant of UBQLN2 (Ubiquilin-2)
A60V (p.Ala60Val) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar 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 population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- 1000Genomes rs368346745
- ESP rs368346745
- ExAC rs368346745
- TOPMed rs368346745
- Uncertain significance
- Amyotrophic lateral sclerosis type 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.10
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 15)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0065)
- Structural context available