A28A (p.Ala28Ala) variant of UBQLN2 (Ubiquilin-2)
A28A (p.Ala28Ala) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- gnomAD X-56563957-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available