S2A (p.Ser2Ala) variant of STAT1 (P42224)
S2A (p.Ser2Ala) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- ExAC rs750529832
- gnomAD rs750529832
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.97
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available