A24G (p.Ala24Gly) variant of UBQLN2 (Ubiquilin-2)
A24G (p.Ala24Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- gnomAD X-56563944-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available