S22N (p.Ser22Asn) variant of CSF3R (Q99062)
S22N (p.Ser22Asn) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- cosmic curated COSV58971
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.22
- CADD 27.90
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00042)
- Structural context available