S54N (p.Ser54Asn) variant of STAT6 (P42226)
S54N (p.Ser54Asn) in STAT6 (P42226) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs575257117
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55671
- 1000Genomes rs575257117
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- CADD 12.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available