E49K (p.Glu49Lys) variant of CSF1R (P07333)
E49K (p.Glu49Lys) 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. 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.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs745585475
- ClinGen CA3507273
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53835
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)