N123S (p.Asn123Ser) variant of STAT1 (P42224)
N123S (p.Asn123Ser) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N123S (p.Asn123Ser) variant details
- p.Asn123Ser
- rs778751233
- ClinGen CA2030271
- ClinVar RCV001962758
- ExAC rs778751233
- Uncertain significance
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available