G16C (p.Gly16Cys) variant of UBQLN2 (Ubiquilin-2)
G16C (p.Gly16Cys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD X-56563919-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.71
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available