V48M (p.Val48Met) variant of CSF1R (P07333)
V48M (p.Val48Met) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
V48M (p.Val48Met) variant details
- p.Val48Met
- rs1256984931
- ClinGen CA361737165
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53834
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.60
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)