E29V (p.Glu29Val) variant of UBQLN2 (Ubiquilin-2)
E29V (p.Glu29Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E29V (p.Glu29Val) variant details
- p.Glu29Val
- TOPMed rs1385545278
- gnomAD rs1385545278
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.16
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available