G18R (p.Gly18Arg) variant of LRBA (P50851)
G18R (p.Gly18Arg) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs150755521
- ClinGen CA3103978
- cosmic curated COSV63958
- ClinVar RCV000892059
- Benign
- not provided; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- MetaLR 0.12
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Benign (not provided; Combined immunodeficiency due to LRBA deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:NAXI population (allele frequency 0.071)