E88K (p.Glu88Lys) variant of LRBA (P50851)
E88K (p.Glu88Lys) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- ExAC rs764517842
- TOPMed rs764517842
- gnomAD rs764517842
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.32
- MetaSVM -0.52
- CADD 27.70
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)