S1421G (p.Ser1421Gly) variant of LRBA (P50851)
S1421G (p.Ser1421Gly) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1.
S1421G (p.Ser1421Gly) variant details
- p.Ser1421Gly
- rs2126905382
- ClinGen CA358453080
- ClinVar RCV001533553
- Ensembl rs2126905382
- Pathogenic
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.30
- MetaLR 0.47
- MetaSVM 0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Combined immunodeficiency due to LRBA deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic