W580S (p.Trp580Ser) variant of MALT1 (Q9UDY8)
W580S (p.Trp580Ser) 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 0.47 / 1. The record also includes published literature.
W580S (p.Trp580Ser) variant details
- p.Trp580Ser
- rs587777337
- ClinGen CA151385
- ClinVar RCV000114994
- Ensembl rs587777337
- Pathogenic
- Combined immunodeficiency due to MALT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Combined immunodeficiency due to MALT1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Combined immunodeficiency associated with homozygous MALT1 mutations. (PMID 24332264)