G139E (p.Gly139Glu) variant of LRBA (P50851)
G139E (p.Gly139Glu) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
G139E (p.Gly139Glu) variant details
- p.Gly139Glu
- ESP rs145746139
- ExAC rs145746139
- TOPMed rs145746139
- gnomAD rs145746139
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- MetaLR 0.05
- MetaSVM -1.02
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)