P64R (p.Pro64Arg) variant of CARD11 (Q9BXL7)
P64R (p.Pro64Arg) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- rs1583410771
- ClinGen CA366647726
- ClinVar RCV000810731
- ClinVar RCV001543390
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.25
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.01
- SIFT 0.34
- EVE 0.10
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available