P27L (p.Pro27Leu) variant of UBQLN2 (Ubiquilin-2)
P27L (p.Pro27Leu) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- TOPMed rs1442285695
- gnomAD rs1442285695
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.01
- CADD 2.38
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available