P57L (p.Pro57Leu) variant of CSF3R (Q99062)
P57L (p.Pro57Leu) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- rs746657668
- ClinGen CA769548
- ClinVar RCV001893584
- ClinVar RCV005552494
- Conflicting interpretations
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.23
- CADD 0.67
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- 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)