P17H (p.Pro17His) variant of UBQLN2 (Ubiquilin-2)
P17H (p.Pro17His) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD X-56563923-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.03
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available