A96V (p.Ala96Val) variant of CSF1R (P07333)
A96V (p.Ala96Val) in CSF1R (P07333) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)