L92V (p.Leu92Val) variant of CSF3R (Q99062)
L92V (p.Leu92Val) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L92V (p.Leu92Val) variant details
- p.Leu92Val
- rs1434762753
- ClinGen CA339424826
- ClinVar RCV002014677
- ClinVar RCV002563580
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.25
- CADD 2.78
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive severe congenital n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)