A44T (p.Ala44Thr) variant of CSF3R (Q99062)
A44T (p.Ala44Thr) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- Ensembl rs745472605
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.64
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available