N5S (p.Asn5Ser) variant of STAT4 (Q14765)
N5S (p.Asn5Ser) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- rs2471013897
- ClinGen CA350003000
- ClinVar RCV003553362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.06
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available