R17Q (p.Arg17Gln) variant of STAT6 (P42226)
R17Q (p.Arg17Gln) 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.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs188884452
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55671
- 1000Genomes rs188884452
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.06
- CADD 19.10
- PolyPhen-2 0.22
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available