S58L (p.Ser58Leu) variant of STAT6 (P42226)
S58L (p.Ser58Leu) in STAT6 (P42226) 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 0.40 / 1. The record also includes population frequency data and structural context.
S58L (p.Ser58Leu) variant details
- p.Ser58Leu
- rs778871413
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55672
- ExAC rs778871413
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.13
- CADD 27.20
- PolyPhen-2 0.50
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available