E86D (p.Glu86Asp) variant of CSF1R (P07333)
E86D (p.Glu86Asp) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
E86D (p.Glu86Asp) variant details
- p.Glu86Asp
- rs767836397
- ClinGen CA3507237
- cosmic curated COSV10961
- ClinVar RCV003353912
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 8.61
- PolyPhen-2 0.44
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00025)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)