L60F (p.Leu60Phe) variant of STAT1 (P42224)
L60F (p.Leu60Phe) 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 0.45 / 1. The record also includes structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- rs2125100882
- ClinGen CA349928046
- ClinVar RCV001997079
- Ensembl rs2125100882
- Uncertain significance
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.52
- MetaLR 0.27
- MetaSVM -0.66
- PolyPhen-2 0.99
- SIFT 0.14
- EVE 0.44
- ClinVar: Uncertain significance (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available