S2A (p.Ser2Ala) variant of STAT4 (Q14765)
S2A (p.Ser2Ala) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- rs906280014
- ClinGen CA62986893
- cosmic curated COSV10467
- ClinVar RCV002781485
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.23
- MetaLR 0.11
- MetaSVM -0.92
- CADD 18.90
- PolyPhen-2 0.99
- SIFT 0.51
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available