I99V (p.Ile99Val) variant of STAT1 (P42224)
I99V (p.Ile99Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
I99V (p.Ile99Val) variant details
- p.Ile99Val
- rs1694805838
- ClinGen CA349927374
- cosmic curated COSV63116
- ClinVar RCV003790978
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.05
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available