N48S (p.Asn48Ser) variant of STAT1 (P42224)
N48S (p.Asn48Ser) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. 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.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- rs1410517497
- ClinGen CA349928124
- ClinVar RCV002967075
- TOPMed rs1410517497
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available