S48L (p.Ser48Leu) variant of TRAF6 (TNF receptor-associated factor 6)
S48L (p.Ser48Leu) in TRAF6 (TNF receptor-associated factor 6) 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 0.39 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- MetaLR 0.37
- MetaSVM -0.57
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available