A28V (p.Ala28Val) variant of UBQLN2 (Ubiquilin-2)
A28V (p.Ala28Val) 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.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD X-56563956-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 9.86
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available