A95T (p.Ala95Thr) variant of CSF1R (P07333)
A95T (p.Ala95Thr) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
A95T (p.Ala95Thr) variant details
- p.Ala95Thr
- cosmic curated COSV53830
- TOPMed rs1437040009
- gnomAD rs1437040009
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 15.30
- PolyPhen-2 0.40
- SIFT 0.13
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)