P20L (p.Pro20Leu) variant of CSF3R (Q99062)
P20L (p.Pro20Leu) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- cosmic curated COSV58965
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available