A13V (p.Ala13Val) variant of CSF3R (Q99062)
A13V (p.Ala13Val) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- cosmic curated COSV58973
- ExAC rs760103886
- TOPMed rs760103886
- gnomAD rs760103886
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available