A26T (p.Ala26Thr) variant of UBQLN2 (Ubiquilin-2)
A26T (p.Ala26Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD X-56563949-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 4.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available