T39N (p.Thr39Asn) variant of UBQLN2 (Ubiquilin-2)
T39N (p.Thr39Asn) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T39N (p.Thr39Asn) variant details
- p.Thr39Asn
- gnomAD X-56563989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.60
- MetaLR 0.61
- MetaSVM 0.34
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available