A26D (p.Ala26Asp) variant of UBQLN2 (Ubiquilin-2)
A26D (p.Ala26Asp) 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.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- gnomAD X-56563950-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.06
- CADD 11.00
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available