P21T (p.Pro21Thr) variant of CSF1R (P07333)
P21T (p.Pro21Thr) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- ExAC rs757795589
- TOPMed rs757795589
- gnomAD rs757795589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)