A19A (p.Ala19Ala) variant of UBQLN2 (Ubiquilin-2)
A19A (p.Ala19Ala) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs771236062
- gnomAD X-56563930-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 13.70
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available