N4S (p.Asn4Ser) variant of UBQLN2 (Ubiquilin-2)
N4S (p.Asn4Ser) 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.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- gnomAD X-56563884-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.03
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available