R141K (p.Arg141Lys) variant of STAT4 (Q14765)
R141K (p.Arg141Lys) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
R141K (p.Arg141Lys) variant details
- p.Arg141Lys
- cosmic curated COSV61829
- 1000Genomes rs899829959
- TOPMed rs899829959
- gnomAD rs899829959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -0.98
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available