N4K (p.Asn4Lys) variant of UBQLN2 (Ubiquilin-2)
N4K (p.Asn4Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- gnomAD X-56563885-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.03
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available