A60E (p.Ala60Glu) variant of UBQLN2 (Ubiquilin-2)
A60E (p.Ala60Glu) in UBQLN2 (Ubiquilin-2) is a missense change. 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.
A60E (p.Ala60Glu) variant details
- p.Ala60Glu
- 1000Genomes rs368346745
- ESP rs368346745
- ExAC rs368346745
- TOPMed rs368346745
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.20
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available