E59K (p.Glu59Lys) variant of LRBA (P50851)
E59K (p.Glu59Lys) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- ExAC rs199469664
- gnomAD rs199469664
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- MetaLR 0.25
- MetaSVM -0.81
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)