G126S (p.Gly126Ser) variant of CARD11 (Q9BXL7)
G126S (p.Gly126Ser) in CARD11 (Q9BXL7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G126S (p.Gly126Ser) variant details
- p.Gly126Ser
- NCI-TCGA Cosmic COSV1007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.22
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available