Q126R (p.Gln126Arg) variant of LRBA (P50851)
Q126R (p.Gln126Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
Q126R (p.Gln126Arg) variant details
- p.Gln126Arg
- TOPMed rs1183305943
- gnomAD rs1183305943
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.23
- MetaSVM -0.69
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)