I2657S (p.Ile2657Ser) variant of LRBA (P50851)
I2657S (p.Ile2657Ser) 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. The record also includes population frequency data and published literature.
I2657S (p.Ile2657Ser) variant details
- p.Ile2657Ser
- rs199469663
- ClinGen CA129909
- ClinVar RCV000029134
- UniProt VAR 068690
- Pathogenic
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.97
- MetaLR 0.49
- MetaSVM 0.21
- PolyPhen-2 0.69
- SIFT 0.00
- EVE 0.38
- ClinVar: Pathogenic (Combined immunodeficiency due to LRBA deficiency)
- EBI: Pathogenic (in CVID8)
- UniProt: Pathogenic (in CVID8)
- Population evidence available
- Cited in: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. (PMID 22608502)