H24L (p.His24Leu) variant of STAT2 (P52630)
H24L (p.His24Leu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- Ensembl rs1592491377
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- CADD 8.12
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available