A47S (p.Ala47Ser) variant of UBQLN2 (Ubiquilin-2)
A47S (p.Ala47Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- gnomAD X-56564012-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- MetaLR 0.18
- MetaSVM -0.84
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available