P6T (p.Pro6Thr) variant of CARD11 (Q9BXL7)
P6T (p.Pro6Thr) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs191347765
- ClinGen CA4132894
- ClinVar RCV000969524
- ClinVar RCV006443554
- Likely benign
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- CADD 20.80
- PolyPhen-2 0.30
- SIFT 0.23
- ClinVar: Likely benign (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.024)
- Structural context available