R123W (p.Arg123Trp) variant of LRBA (P50851)
R123W (p.Arg123Trp) in LRBA (P50851) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R123W (p.Arg123Trp) variant details
- p.Arg123Trp
- rs761325483
- NCI-TCGA Cosmic COSV6394
- cosmic curated COSV63949
- ExAC rs761325483
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- MetaLR 0.41
- MetaSVM -0.15
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)