A18T (p.Ala18Thr) variant of UBQLN2 (Ubiquilin-2)
A18T (p.Ala18Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD X-56563925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available