D70N (p.Asp70Asn) variant of UBQLN2 (Ubiquilin-2)
D70N (p.Asp70Asn) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- TOPMed rs200184714
- gnomAD rs200184714
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.27
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available