S7G (p.Ser7Gly) variant of UBQLN2 (Ubiquilin-2)
S7G (p.Ser7Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- gnomAD X-56563892-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available