P21L (p.Pro21Leu) variant of CSF1R (P07333)
P21L (p.Pro21Leu) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- Ensembl rs2113833748
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)