A28S (p.Ala28Ser) variant of UBQLN2 (Ubiquilin-2)
A28S (p.Ala28Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD X-56563955-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 4.44
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available