L119S (p.Leu119Ser) variant of STAT2 (P52630)
L119S (p.Leu119Ser) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L119S (p.Leu119Ser) variant details
- p.Leu119Ser
- gnomAD rs1427792622
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.48
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available