A47A (p.Ala47Ala) variant of UBQLN2 (Ubiquilin-2)
A47A (p.Ala47Ala) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- rs143098023
- gnomAD X-56564014-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.80
- Population evidence available
- Structural context available
- Literature evidence available