E25G (p.Glu25Gly) variant of LRBA (P50851)
E25G (p.Glu25Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD rs1355929772
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- MetaLR 0.09
- MetaSVM -0.95
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the South Asian population (allele frequency 1.2e-05)