R42G (p.Arg42Gly) variant of LRBA (P50851)
R42G (p.Arg42Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- TOPMed rs1745214535
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- MetaLR 0.34
- MetaSVM -0.43
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)