V138L (p.Val138Leu) variant of STAT2 (P52630)
V138L (p.Val138Leu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V138L (p.Val138Leu) variant details
- p.Val138Leu
- ExAC rs778099021
- gnomAD rs778099021
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.14
- CADD 9.00
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available