R41Q (p.Arg41Gln) variant of CSF1R (P07333)
R41Q (p.Arg41Gln) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs777239066
- ClinGen CA3507278
- NCI-TCGA Cosmic COSV5384
- cosmic curated COSV53842
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 21.20
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)