G132V (p.Gly132Val) variant of LRBA (P50851)
G132V (p.Gly132Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
G132V (p.Gly132Val) variant details
- p.Gly132Val
- ExAC rs773074081
- TOPMed rs773074081
- gnomAD rs773074081
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.40
- MetaSVM -0.13
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)