V32M (p.Val32Met) variant of CSF1R (P07333)
V32M (p.Val32Met) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
V32M (p.Val32Met) variant details
- p.Val32Met
- rs372210450
- ClinGen CA3507282
- cosmic curated COSV53832
- ClinVar RCV002133914
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign (in dbSNP:rs56048668)
- UniProt: Likely benign (in dbSNP:rs56048668)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)