G133D (p.Gly133Asp) variant of STAT6 (P42226)
G133D (p.Gly133Asp) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G133D (p.Gly133Asp) variant details
- p.Gly133Asp
- cosmic curated COSV10441
- ExAC rs761852923
- gnomAD rs761852923
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available