E29K (p.Glu29Lys) variant of UBQLN2 (Ubiquilin-2)
E29K (p.Glu29Lys) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- TOPMed rs1184902272
- gnomAD rs1184902272
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.11
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available