T82I (p.Thr82Ile) variant of CSF3R (Q99062)
T82I (p.Thr82Ile) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- ExAC rs760367363
- gnomAD rs760367363
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.27
- CADD 9.43
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available