A18V (p.Ala18Val) variant of UBQLN2 (Ubiquilin-2)
A18V (p.Ala18Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD rs1317265713
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00056)
- Structural context available