P54Q (p.Pro54Gln) variant of CSF1R (P07333)
P54Q (p.Pro54Gln) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P54Q (p.Pro54Gln) variant details
- p.Pro54Gln
- ExAC rs752543190
- gnomAD rs752543190
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 3.82
- PolyPhen-2 0.21
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.5e-05)