G139A (p.Gly139Ala) variant of LRBA (P50851)
G139A (p.Gly139Ala) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
G139A (p.Gly139Ala) variant details
- p.Gly139Ala
- ESP rs145746139
- ExAC rs145746139
- TOPMed rs145746139
- gnomAD rs145746139
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- MetaLR 0.07
- MetaSVM -1.03
- CADD 12.10
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)