D40N (p.Asp40Asn) variant of CSF3R (Q99062)
D40N (p.Asp40Asn) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- ExAC rs754120929
- gnomAD rs754120929
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.26
- CADD 17.60
- PolyPhen-2 0.30
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available