Q6E (p.Gln6Glu) variant of SOCS1 (O15524)
Q6E (p.Gln6Glu) in SOCS1 (O15524) is a missense change. The available record places it in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q6E (p.Gln6Glu) variant details
- p.Gln6Glu
- rs587778692
- ClinGen CA162192
- cosmic curated COSV10524
- ClinVar RCV000122087
- not provided
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.72
- ClinVar: not provided (not specified)
- UniProt: Not provided
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available