F21L (p.Phe21Leu) variant of STAT4 (Q14765)
F21L (p.Phe21Leu) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs1418758324
- ClinGen CA350002877
- ClinVar RCV003704971
- TOPMed rs1418758324
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.00
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available