C71Y (p.Cys71Tyr) variant of STAT2 (P52630)
C71Y (p.Cys71Tyr) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
C71Y (p.Cys71Tyr) variant details
- p.Cys71Tyr
- ExAC rs750894216
- gnomAD rs750894216
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.12
- CADD 7.98
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available