S23* (p.Ser23Ter) variant of CARD9 (Q9H257)
S23* (p.Ser23Ter) in CARD9 (Q9H257) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- rs775267971
- ClinGen CA375546475
- ClinVar RCV002271345
- ExAC rs775267971
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis. (PMID 29080677)