E59G (p.Glu59Gly) variant of LRBA (P50851)
E59G (p.Glu59Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- ExAC rs779675769
- gnomAD rs779675769
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.34
- MetaSVM -0.52
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)