S775L (p.Ser775Leu) variant of CARD11 (Q9BXL7)
S775L (p.Ser775Leu) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 11b with atopic dermatitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
S775L (p.Ser775Leu) variant details
- p.Ser775Leu
- rs2115038523
- ClinGen CA366642811
- ClinVar RCV003482923
- Ensembl rs2115038523
- Likely pathogenic
- Immunodeficiency 11b with atopic dermatitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.78
- MetaLR 0.36
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.66
- ClinVar: Likely pathogenic (Immunodeficiency 11b with atopic dermatitis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available