L65V (p.Leu65Val) variant of CSF3R (Q99062)
L65V (p.Leu65Val) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L65V (p.Leu65Val) variant details
- p.Leu65Val
- ExAC rs757380490
- TOPMed rs757380490
- gnomAD rs757380490
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.15
- CADD 11.20
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available