D52V (p.Asp52Val) variant of STAT2 (P52630)
D52V (p.Asp52Val) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D52V (p.Asp52Val) variant details
- p.Asp52Val
- gnomAD rs1879495198
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.35
- CADD 25.40
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available