P13S (p.Pro13Ser) variant of UBQLN2 (Ubiquilin-2)
P13S (p.Pro13Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD X-56563910-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.07
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available