K145R (p.Lys145Arg) variant of STAT1 (P42224)
K145R (p.Lys145Arg) 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 0.36 / 1. The record also includes structural context.
K145R (p.Lys145Arg) variant details
- p.Lys145Arg
- rs2125079464
- ClinGen CA349925264
- ClinVar RCV002008679
- Ensembl rs2125079464
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.56
- EVE 0.19
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available