P49S (p.Pro49Ser) variant of UBQLN2 (Ubiquilin-2)
P49S (p.Pro49Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- TOPMed rs969212678
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 17.00
- PolyPhen-2 0.12
- SIFT 0.70
- Population evidence available
- Structural context available