G132D (p.Gly132Asp) variant of LRBA (P50851)
G132D (p.Gly132Asp) 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.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- ExAC rs773074081
- TOPMed rs773074081
- gnomAD rs773074081
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.40
- MetaSVM -0.17
- CADD 23.10
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available