S67L (p.Ser67Leu) variant of STAT6 (P42226)
S67L (p.Ser67Leu) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S67L (p.Ser67Leu) variant details
- p.Ser67Leu
- rs767265892
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55670
- ExAC rs767265892
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.05
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available