A24D (p.Ala24Asp) variant of UBQLN2 (Ubiquilin-2)
A24D (p.Ala24Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD X-56563944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available