R123Q (p.Arg123Gln) variant of LRBA (P50851)
R123Q (p.Arg123Gln) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R123Q (p.Arg123Gln) variant details
- p.Arg123Gln
- cosmic curated COSV10467
- ExAC rs753108434
- TOPMed rs753108434
- gnomAD rs753108434
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.39
- MetaSVM -0.30
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)