S23P (p.Ser23Pro) variant of UBQLN2 (Ubiquilin-2)
S23P (p.Ser23Pro) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD X-56563940-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.05
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available