A2T (p.Ala2Thr) variant of UBQLN2 (Ubiquilin-2)
A2T (p.Ala2Thr) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD X-56563877-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.69
- CADD 25.80
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available