A96T (p.Ala96Thr) variant of CSF1R (P07333)
A96T (p.Ala96Thr) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- rs1318254419
- ClinGen CA361735696
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53831
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0731
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)