N185S (p.Asn185Ser) variant of STAT1 (P42224)
N185S (p.Asn185Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
N185S (p.Asn185Ser) variant details
- p.Asn185Ser
- rs1051397529
- ClinGen CA62683355
- cosmic curated COSV61189
- ClinVar RCV001990029
- Uncertain significance
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available