S113L (p.Ser113Leu) variant of STAT3 (P40763)
S113L (p.Ser113Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- gnomAD rs1215714766
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available