S47A (p.Ser47Ala) variant of STAT4 (Q14765)
S47A (p.Ser47Ala) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S47A (p.Ser47Ala) variant details
- p.Ser47Ala
- TOPMed rs1381422972
- gnomAD rs1381422972
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.02
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available