E90G (p.Glu90Gly) variant of LRBA (P50851)
E90G (p.Glu90Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
E90G (p.Glu90Gly) variant details
- p.Glu90Gly
- gnomAD rs1382200207
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.33
- MetaSVM -0.50
- CADD 27.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)