L102R (p.Leu102Arg) variant of CARD11 (Q9BXL7)
L102R (p.Leu102Arg) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
L102R (p.Leu102Arg) variant details
- p.Leu102Arg
- rs1424722453
- ClinGen CA366647456
- ClinVar RCV001351310
- gnomAD rs1424722453
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.99
- MetaLR 0.21
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.55
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available