S89I (p.Ser89Ile) variant of MALT1 (Q9UDY8)
S89I (p.Ser89Ile) in MALT1 (Q9UDY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency due to MALT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S89I (p.Ser89Ile) variant details
- p.Ser89Ile
- rs398123058
- ClinGen CA144882
- cosmic curated COSV10967
- ClinVar RCV000056326
- Pathogenic
- Combined immunodeficiency due to MALT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.99
- MetaLR 0.39
- MetaSVM -0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Combined immunodeficiency due to MALT1 deficiency)
- EBI: Pathogenic (in IMD12)
- UniProt: Pathogenic (in IMD12)
- Structural context available
- Cited in: A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. (PMID 23727036)