A74T (p.Ala74Thr) variant of CSF1R (P07333)
A74T (p.Ala74Thr) 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.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- cosmic curated COSV53833
- ExAC rs756076440
- TOPMed rs756076440
- gnomAD rs756076440
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 15.50
- PolyPhen-2 0.20
- SIFT 0.18
- Most common in the East Asian population (allele frequency 0.00013)