N4D (p.Asn4Asp) variant of UBQLN2 (Ubiquilin-2)
N4D (p.Asn4Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- gnomAD X-56563883-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.04
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available